ataxia

Summary

Summary: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.

Top Publications

  1. pmc Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans
    Vafa Bayat
    Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Biol 10:e1001288. 2012
  2. doi Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
    M Anheim
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, Universite de Strasbourg, INSERM, Illkirch, France
    Brain 132:2688-98. 2009
  3. pmc CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
    Peter K Todd
    Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
    Neuron 78:440-55. 2013
  4. pmc Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
    Sarah B Pierce
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:282-8. 2010
  5. pmc Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
    Randi Hagerman
    Department of Pediatrics and the MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA
    Lancet Neurol 12:786-98. 2013
  6. ncbi Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
    J C Jen
    Department of Neurology, School of Medicine, University of California, Los Angeles, CA 90095, USA
    Neurology 65:529-34. 2005
  7. ncbi FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California 95616, USA
    RNA Biol 1:103-5. 2004
  8. pmc A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
    Alexander G Bassuk
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 83:572-81. 2008
  9. ncbi Cortical control of visually guided reaching: evidence from patients with optic ataxia
    Hans Otto Karnath
    Section Neuropsychology, Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Cereb Cortex 15:1561-9. 2005
  10. pmc Milestones in ataxia
    Thomas Klockgether
    Department of Neurology, University Hospital Bonn, Bonn, Germany
    Mov Disord 26:1134-41. 2011

Detail Information

Publications326 found, 100 shown here

  1. pmc Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans
    Vafa Bayat
    Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Biol 10:e1001288. 2012
    ..With the aid of this knowledge, we identified MARS2 to be mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy (ARSAL) patients...
  2. doi Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
    M Anheim
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, Universite de Strasbourg, INSERM, Illkirch, France
    Brain 132:2688-98. 2009
    b>Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and ..
  3. pmc CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
    Peter K Todd
    Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
    Neuron 78:440-55. 2013
    Fragile X-associated tremor ataxia syndrome (FXTAS) results from a CGG repeat expansion in the 5' UTR of FMR1...
  4. pmc Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
    Sarah B Pierce
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:282-8. 2010
    ....
  5. pmc Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
    Randi Hagerman
    Department of Pediatrics and the MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA
    Lancet Neurol 12:786-98. 2013
    ..disorder, autism spectrum disorder, seizure disorder) and neurodegenerative (fragile X-associated tremor/ataxia syndrome [FXTAS]) phenotypes through an entirely distinct molecular mechanism involving increased FMR1 mRNA ..
  6. ncbi Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
    J C Jen
    Department of Neurology, School of Medicine, University of California, Los Angeles, CA 90095, USA
    Neurology 65:529-34. 2005
    ..Mutations in CACNA1A encoding a neuronal calcium channel and ATP1A2 encoding an ion pump cause episodic ataxia, hemiplegic migraine, and seizures...
  7. ncbi FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    Flora Tassone
    Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California 95616, USA
    RNA Biol 1:103-5. 2004
    Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting older adult males with premutation alleles of the fragile X mental retardation 1 (FMR1) gene...
  8. pmc A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
    Alexander G Bassuk
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 83:572-81. 2008
    ..lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia...
  9. ncbi Cortical control of visually guided reaching: evidence from patients with optic ataxia
    Hans Otto Karnath
    Section Neuropsychology, Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Cereb Cortex 15:1561-9. 2005
    ..In the human, severe misreaching termed 'optic ataxia' has been ascribed to lesions of the superior parietal lobule (SPL) and/or the intraparietal sulcus...
  10. pmc Milestones in ataxia
    Thomas Klockgether
    Department of Neurology, University Hospital Bonn, Bonn, Germany
    Mov Disord 26:1134-41. 2011
    ..milestones during this period were the cloning of the genes associated with the common spinocerebellar ataxias, ataxia telangiectasia, and Friedreich ataxia...
  11. pmc Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome
    Agnieszka Kiliszek
    Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12 14, 61 704 Poznan, Poland
    Nucleic Acids Res 39:7308-15. 2011
    ..of the fragile X mental retardation gene FMR1 and are associated with two diseases: fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X syndrome (FXS)...
  12. pmc Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome
    Chantal Sellier
    Department of Translational Medicine, IGBMC, Illkirch 67400, France
    Cell Rep 3:869-80. 2013
    Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disorder caused by the expansion of 55-200 CGG repeats in the 5' UTR of FMR1...
  13. ncbi Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14
    Qing Wang
    Department of Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis 63110, USA
    Neuron 35:25-38. 2002
    ..Fgf14-deficient mice were viable, fertile, and anatomically normal, but developed ataxia and a paroxysmal hyperkinetic movement disorder...
  14. doi Massively parallel sequencing of ataxia genes after array-based enrichment
    Alexander Hoischen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 31:494-9. 2010
    ..The model disorder selected was AR ataxia, using five subjects with known mutations and two unaffected controls...
  15. ncbi The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
    M C Moreira
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, Illkirch, C U de Strasbourg, France
    Nat Genet 29:189-93. 2001
    The newly recognized ataxia-ocular apraxia 1 (AOA1; MIM 208920) is the most frequent cause of autosomal recessive ataxia in Japan and is second only to Friedreich ataxia in Portugal...
  16. pmc Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
    Detlef Bockenhauer
    Great Ormond Street Hospital University College London, London, United Kingdom
    N Engl J Med 360:1960-70. 2009
    Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis...
  17. ncbi No double-dissociation between optic ataxia and visual agnosia: multiple sub-streams for multiple visuo-manual integrations
    L Pisella
    Inserm UMR S 534, Institut National de la Sante et de la Recherche Medicale, and Université Claude Bernard Lyon, Espace et Action, Bron, France
    Neuropsychologia 44:2734-48. 2006
    ..The "double-dissociation" between visual agnosia (VA), a deficit of visual recognition, and optic ataxia (OA), a deficit of visuo-manual guidance, considered as consecutive to ventral and dorsal damage, respectively, ..
  18. doi Video game-based coordinative training improves ataxia in children with degenerative ataxia
    Winfried Ilg
    Department of Cognitive Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Neurology 79:2056-60. 2012
    ..Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have drawbacks for children, often including a lack of motivation for high-frequent ..
  19. doi Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase
    Marios Hadjivassiliou
    Department of Neurology, Royal Hallamshire Hospital, Sheffield, UK
    Ann Neurol 64:332-43. 2008
    ..We have identified a novel neuronal transglutaminase isozyme and investigated whether this enzyme is the target of the immune response in patients with neurological dysfunction...
  20. ncbi The parallel rod floor test: a measure of ataxia in mice
    Helen M Kamens
    Department of Behavioral Neuroscience, Portland Alcohol Research Center, Oregon Health and Science University, Portland, Oregon 97239, USA
    Nat Protoc 2:277-81. 2007
    The parallel rod floor test is a new model of ataxia in mice. It allows the simultaneous measurement of ataxia and locomotor activity...
  21. pmc Ataxia and altered dendritic calcium signaling in mice carrying a targeted null mutation of the calbindin D28k gene
    M S Airaksinen
    Department of Neurochemistry, Max Planck Institute for Psychiatry, Martinsried, Germany
    Proc Natl Acad Sci U S A 94:1488-93. 1997
    ..Correlated with this unusual type of ataxia, confocal calcium imaging of Purkinje cells in cerebellar slices revealed marked changes of synaptically evoked ..
  22. doi Neurologic Wilson's disease
    Matthew T Lorincz
    Department of Neurology, University of Michigan Health Systems, Ann Arbor, Michigan, USA
    Ann N Y Acad Sci 1184:173-87. 2010
    ..This review focuses on the neurologic features of Wilson's disease, its diagnosis, and treatment options...
  23. ncbi Pointing errors in immediate and delayed conditions in unilateral optic ataxia
    P Revol
    Service de Reeducation Neurologique, Hôpital H Gabrielle, Route de Vourles, BP 57, F 69565 Saint Genis Laval, France
    Spat Vis 16:347-64. 2003
    The present paper provides an analysis of the pointing errors of a patient with unilateral optic ataxia (O.K...
  24. pmc Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage
    Amila Suraweera
    Radiation Biology and Oncology Laboratory, Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia
    J Cell Biol 177:969-79. 2007
    ..response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxia-telangiectasia...
  25. ncbi Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice
    J Dowling
    Department of Molecular Genetics and Cell Biology, Howard Hughes Medical Institute, Chicago, Illinois 60637, USA
    Dev Biol 187:131-42. 1997
    ..in the dystonia musculorum mouse, exhibiting rapid spinal nerve degeneration, dystonic movements, and severe ataxia. By defining the developmental and tissue-specific expression of the neuronal form of BPAG1 (BPAG1-n) and by ..
  26. ncbi ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
    J C Engert
    Montreal Genome Centre, McGill University Health Centre Research Institute, Montreal, Quebec, Canada
    Nat Genet 24:120-5. 2000
    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region of Quebec...
  27. ncbi Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
    S A Backman
    Department of Medical Biophysics, University of Toronto and Ontario Cancer Institute, 610 University Avenue, Toronto, Ontario M5G 2M9, Canada
    Nat Genet 29:396-403. 2001
    ..Mice homozygous for this deletion (PtenloxP/loxP;Gfap-cre), developed seizures and ataxia by 9 wk and died by 29 wk...
  28. ncbi Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
    K Ouahchi
    Institut de Génétique et de Biologie Moléculaire et Cellulaire CNRS, INSERM, ULP, Illkirch, Strasbourg, France
    Nat Genet 9:141-5. 1995
    b>Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13...
  29. pmc SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
    Gregor D Gilfillan
    Department of Medical Genetics, Ulleval University Hospital, NO 0407 Oslo, Norway
    Am J Hum Genet 82:1003-10. 2008
    ..in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(..
  30. ncbi GABA transporter deficiency causes tremor, ataxia, nervousness, and increased GABA-induced tonic conductance in cerebellum
    Chi Sung Chiu
    Division of Biology, California Institute of Technology, Pasadena, California 91125, USA
    J Neurosci 25:3234-45. 2005
    ....
  31. ncbi Transgenic rescue of ataxia mice with neuronal-specific expression of ubiquitin-specific protease 14
    Stephen Crimmins
    Department of Neurobiology, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    J Neurosci 26:11423-31. 2006
    The ataxia mutation (axJ) is a recessive neurological mutation that results in reduced growth, ataxia, and hindlimb muscle wasting in mice...
  32. pmc A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse
    Alexander F Jeans
    Medical Research Council Functional Genetics Unit, University of Oxford, South Parks Road, Oxford, OX1 3QX, United Kingdom
    Proc Natl Acad Sci U S A 104:2431-6. 2007
    ..The mice also display ataxia and impaired sensorimotor gating, a phenotype which has been associated with psychiatric disorders in humans...
  33. ncbi POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    G Van Goethem
    Division of Neurology and the Neuromuscular Reference Center, University Hospital, Antwerpen, Belgium
    Neurology 63:1251-7. 2004
    To identify POLG mutations in patients with sensory ataxia and CNS features.
  34. doi Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study
    Nichola Z Lax
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK
    J Neuropathol Exp Neurol 72:164-75. 2013
    ..Clinical features included early-onset cataracts, ataxia, and progressive paraparesis, with sequencing revealing the presence of a novel de novo m...
  35. doi Ataxia in mitochondrial disorders
    Massimo Zeviani
    Istituto Nazionale Neurologico C Besta IRCCS, Milano, Italy
    Handb Clin Neurol 103:359-72. 2012
    ..Mitochondrial disorders can give rise to pure cerebellar, spinocerebellar, or sensory ataxia, usually as part of a multisystem (and multisymptom) disorder...
  36. pmc Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families
    L Cavalier
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut Nationale de la Sante et de la Recherche Medicale Universite Louis Pasteur, Strasbourg, France
    Am J Hum Genet 62:301-10. 1998
    b>Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia...
  37. doi Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
    S G Lindquist
    Department of Clinical Genetics, 4062, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    Clin Genet 83:279-83. 2013
    ..Our study widens the clinical spectrum of C9ORF72 related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD-ALS disorders. There was no indication of a modifying effect of the ATXN2 gene...
  38. pmc Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
    M C Moreira
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, Illkirch, C U de Strasbourg, France
    Am J Hum Genet 68:501-8. 2001
    b>Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and ..
  39. doi New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
    Tiina Ojala
    Department of Pediatric Cardiology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Pediatr Res 72:432-7. 2012
    ..We report a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome (DCMA)...
  40. ncbi Dorsal and ventral stream interaction: contributions from optic ataxia
    Marc Himmelbach
    Section Neuropsychology, Department of Cognitive Neurology, University of Tubingen, Germany
    J Cogn Neurosci 17:632-40. 2005
    ..After lesions of the dorsal stream in patients with optic ataxia, it has recently been shown that the ventral perception-related system might contribute to visuomotor processing ..
  41. ncbi Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics
    Marios Hadjivassiliou
    Department of Neurology, The Royal Hallamshire Hospital, Sheffield, UK
    Brain 126:685-91. 2003
    We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested that this disease entity may account for a large number of patients with sporadic idiopathic ataxia...
  42. doi Gluten T cell epitope targeting by TG3 and TG6; implications for dermatitis herpetiformis and gluten ataxia
    Jorunn Stamnaes
    Centre for Immune Regulation, Institute of Immunology, University of Oslo, Oslo University Hospital, Rikshospitalet, Oslo, Norway
    Amino Acids 39:1183-91. 2010
    ..In dermatitis herpetiformis (DH), TG3 appears to be the target autoantigen whereas in gluten ataxia (GA) autoantibodies reactive with TG6 are present...
  43. ncbi Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
    Chiara Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Mov Disord 20:1358-61. 2005
    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy...
  44. ncbi Spinal arachnoid pseudocysts in 10 rottweilers
    K Jurina
    Department of Small Animal Medicine, University of Leipzig, An den Tierkliniken 23, 04103 Leipzig, Germany
    J Small Anim Pract 45:9-15. 2004
    ..Clinical signs were consistent with focal compression of the affected spinal cord segments. The animals showed ataxia of all four limbs, with truncal ataxia and marked hypermetria in cases of C2-C3 involvement, or ambulatory ..
  45. doi CaV2.1 channelopathies
    Daniela Pietrobon
    Department of Biomedical Sciences, University of Padova, 35121, Padua, Italy
    Pflugers Arch 460:375-93. 2010
    ..several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6)...
  46. ncbi Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
    Andrea M Richter
    Service de Genetique Medicale, Hopital Sainte Justine, 3175 Cote Sainte Catherine, H3T 1C5, Montreal, Quebec, Canada
    Neurogenetics 5:165-70. 2004
    We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)...
  47. ncbi A phenotype without spasticity in sacsin-related ataxia
    H Shimazaki
    Department of Neurology, Jichi Medical School, Tochigi 329 0498, Japan
    Neurology 64:2129-31. 2005
    The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder...
  48. ncbi Novel SACS mutation in a Belgian family with sacsin-related ataxia
    Y Ouyang
    Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329 0498, Japan
    J Neurol Sci 264:73-6. 2008
    The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c...
  49. doi SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
    Y Liao
    Neurological Clinic and Institute of Applied Physiology, University of Ulm, Ulm, Germany
    Neurology 75:1454-8. 2010
    ..Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures plus, and intractable epilepsy of infancy...
  50. ncbi Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
    G S Grieco
    Molecular Neurogenetics, IRCCS C Mondino, Center of Experimental Neurobiology Mondino Tor Vergata S Lucia, Rome, Italy
    Neurology 62:103-6. 2004
    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere...
  51. pmc Progressive dementia associated with ataxia or obesity in patients with Tropheryma whipplei encephalitis
    Florence Fenollar
    Unite des Rickettsies, URMITE CNRS IRD UMR 6236, IFR 48, Faculte de Medecine, Universite de la Mediterranee, Marseille, France
    BMC Infect Dis 11:171. 2011
    ..Tropheryma whipplei, the agent of Whipple's disease, causes localised infections in the absence of histological digestive involvement. Our objective is to describe T. whipplei encephalitis...
  52. pmc Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination
    David H Margolin
    Department of Neurology, Massachusetts General Hospital, Boston 02115, USA
    N Engl J Med 368:1992-2003. 2013
    The combination of ataxia and hypogonadism was first described more than a century ago, but its genetic basis has remained elusive.
  53. pmc RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome
    Yujing Li
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    Brain Res 1462:112-7. 2012
    ..Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder, has been recognized in older male fragile X premutation ..
  54. ncbi crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1)
    Valerio Conti
    Laboratory of Molecular Genetics, G Gaslini Institute, 16148 Genova, Italy
    Int J Mol Med 18:593-600. 2006
    ..crv4 is an interesting model to extend the study of Grm1 function and the pathological effects of Grm1 deficiency in vivo...
  55. doi Brain activation during immediate and delayed reaching in optic ataxia
    Marc Himmelbach
    Hertie Institute for Clinical Brain Research, Eberhard Karls University, Tubingen, Germany
    Neuropsychologia 47:1508-17. 2009
    Patients with optic ataxia after lesions of the occipito-parietal cortex demonstrate gross deviations of movements to visual targets in their peripheral visual field...
  56. doi Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromes
    Neal Prakash
    Department of Internal Medicine, John A Burns School of Medicine, University of Hawaii, PO Box 4636, Honolulu, HI 96812 4636, USA
    Neuroimage 47:T72-81. 2009
    ..To determine prospectively if qualitative and quantitative diffusion tensor imaging (DTI) metrics of white matter integrity are better than conventional magnetic resonance imaging (MRI) metrics for discriminating cerebellar diseases...
  57. pmc ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia
    Allison Brashear
    Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC 27157, USA
    Dev Med Child Neurol 54:1065-7. 2012
    We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene...
  58. ncbi Optic ataxia as a result of the breakdown of the global tuning fields of parietal neurones
    Alexandra Battaglia-Mayer
    Dipartimento di Fisiologia Umana e Farmacologia, Universita di Roma La Sapienza, Piazzale Aldo Moro 5, 00185 Rome, Italy
    Brain 125:225-37. 2002
    Optic ataxia is characterized by an impaired visual control of the direction of arm reaching to a visual target, accompanied by defective hand orientation and grip formation...
  59. pmc The role of the caudal superior parietal lobule in updating hand location in peripheral vision: further evidence from optic ataxia
    Joshua A Granek
    School of Kinesiology and Health Science, Centre for Vision Research, York University, Toronto, Ontario, Canada
    PLoS ONE 7:e46619. 2012
    Patients with optic ataxia (OA), who are missing the caudal portion of their superior parietal lobule (SPL), have difficulty performing visually-guided reaches towards extra-foveal targets...
  60. ncbi Antagonism of ethanol ataxia by intracerebellar nicotine: possible modulation by mouse cerebellar nitric oxide and cGMP
    Salim Al-Rejaie
    Department of Pharmacology and Toxicology, Brody School of Medicine, East Carolina University Greenville, NC 27834, USA
    Brain Res Bull 69:187-96. 2006
    We have reported previously that intracerebellar nicotine attenuates ethanol ataxia via nicotinic-cholinergic receptors...
  61. pmc The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1
    David A Parfitt
    William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
    Hum Mol Genet 18:1556-65. 2009
    ..The protein sacsin, which is mutated in the early-onset neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay, is a node in this interactome...
  62. doi Novel mutations in the sacsin gene in ataxia patients from Maritime Canada
    D L Guernsey
    Department of Pathology, Dalhousie University, Halifax, NS, Canada
    J Neurol Sci 288:79-87. 2010
    We ascertained two families in Eastern Canada segregating a form of ataxia consistent with a recessive mode of inheritance...
  63. doi Attention for action? Examining the link between attention and visuomotor control deficits in a patient with optic ataxia
    Christopher Striemer
    Department of Psychology, University of Waterloo, Waterloo, Ontario, Canada
    Neuropsychologia 47:1491-9. 2009
    The classic definition of 'pure' optic ataxia suggests that these patients' visuomotor impairments are independent of perceptual or attentional deficits...
  64. doi There may be more to reaching than meets the eye: re-thinking optic ataxia
    Stephen R Jackson
    Institute of Neuroscience, University of Nottingham, Nottingham, UK
    Neuropsychologia 47:1397-408. 2009
    Optic ataxia (OA) is generally thought of as a disorder of visually guided reaching movements that cannot be explained by any simple deficit in visual or motor processing...
  65. ncbi Where the eye looks, the hand follows; limb-dependent magnetic misreaching in optic ataxia
    Stephen R Jackson
    School of Psychology, The University of Nottingham, University Park, Nottingham NG7 2RD, United Kingdom
    Curr Biol 15:42-6. 2005
    ..to the PPC, particularly bilateral lesions, leads to impairments of visually guided reaching movements (optic ataxia)...
  66. doi Systematic retinotopic reaching error vectors in unilateral optic ataxia
    Annabelle Blangero
    Espace et Action, INSERM U864, 16 Avenue du doyen Lépine, Bron, France
    Cortex 46:77-93. 2010
    ..study is to determine the reference frame of the pointing errors that characterize patients with unilateral optic ataxia (OA)...
  67. ncbi Optic ataxia errors depend on remapped, not viewed, target location
    A Z Khan
    Espace et Action, Institut National de la Sante et de la Recherche Medicale, U534, Institut Fédératif des Neurosciences Lyon, 16 avenue Doyen Lépine, 69676, Bron, France
    Nat Neurosci 8:418-20. 2005
    Optic ataxia is a disorder associated with posterior parietal lobe lesions, in which visually guided reaching errors typically occur for peripheral targets...
  68. ncbi The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures
    Satoko Tokuda
    Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Yoshidakonoe cho, Sakyo ku, Kyoto, 606 8501 Japan
    Brain Res 1133:168-77. 2007
    The groggy rat (strain name; GRY) exhibits ataxia, an unstable gait, and paroxysmal severe extension of the entire body. Adults show a reduction in size of the cerebellum and presynaptic and axon terminal abnormalities of Purkinje cells...
  69. doi Cerebellar peduncle injury in patients with ataxia following diffuse axonal injury
    Ji Heon Hong
    Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, Daemyungdong, Namku, Taegu, Republic of Korea
    Brain Res Bull 80:30-5. 2009
    No diffusion tensor imaging (DTI) study has yet investigated ataxia in diffuse axonal injury (DAI). In the current study, we used DTI to investigate cerebellar peduncle lesions of patients who showed severe ataxia following DAI...
  70. doi Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain
    Paola Imbrici
    Section of Human Physiology, Dept of Internal Medicine, University of Perugia School of Medicine, Via del Giochetto, Perugia, Italy
    Am J Physiol Cell Physiol 300:C1314-22. 2011
    Episodic ataxia type 1 (EA1) is an autosomal dominant disorder characterized by continuous myokymia and episodic attacks of ataxia. Mutations in the gene KCNA1 that encodes the voltage-gated potassium channel Kv1.1 are responsible for EA1...
  71. doi Optic ataxia and the function of the dorsal stream: contributions to perception and action
    Laure Pisella
    INSERM, U864, Espace et Action, 16 Avenue Lepine, Bron F 69676, France
    Neuropsychologia 47:3033-44. 2009
    Optic ataxia (OA) is one of the symptoms pertaining to Bálint's Syndrome. It has been described clinically for nearly 80 years before it became a cornerstone of the most popular dual stream theory of the visual brain...
  72. doi Ataxia with vitamin E deficiency: update of molecular diagnosis
    I Di Donato
    Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Universita degli Studi di Siena, Viale Bracci, 53100, Siena, Italy
    Neurol Sci 31:511-5. 2010
    b>Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due to mutations in TTPA gene (Arita et al. in Biochem J 306(Pt. 2):437-443, 1995; Hentati et al...
  73. ncbi Episodic ataxia type 1: a neuronal potassium channelopathy
    Sanjeev Rajakulendran
    Department of Molecular Neuroscience, Centre for Neuromuscular Disease, Queen Square, London WC1N 3BG, United Kingdom
    Neurotherapeutics 4:258-66. 2007
    Episodic ataxia type 1 is a paroxysmal neurological disorder characterized by short-lived attacks of recurrent midline cerebellar dysfunction and continuous motor activity. Mutations in KCN1A, the gene encoding Kv1...
  74. ncbi Reaching errors in optic ataxia are linked to eye position rather than head or body position
    H C Dijkerman
    Helmholtz Research Institute, Utrecht University, Utrecht, The Netherlands
    Neuropsychologia 44:2766-73. 2006
    ..Lesions in the PPC can result in optic ataxia, a condition in which the visual guidance of goal-directed movements is impaired...
  75. doi How far do patients with sensory ataxia benefit from so-called "proprioceptive rehabilitation"?
    B Missaoui
    pôle de médecine physique et réadaptation, Hopital Rothschild, AP HP, Universite Pierre et Marie Curie Paris 6, 33, boulevard de Picpus, 75012 Paris, France
    Neurophysiol Clin 39:229-33. 2009
    ..balance and gait training with limited vision was performed in 24 patients with clinically defined sensory ataxia. There were 15 patients with bilateral somatosensory loss related to chronic neuropathy and nine patients with ..
  76. doi Delay abolishes the obstacle avoidance deficit in unilateral optic ataxia
    Nichola J Rice
    Cognitive Neuroscience Research Unit, Wolfson Research Institute, University of Durham, Queen s Campus, Stockton on Tees TS17 6BH, UK
    Neuropsychologia 46:1549-57. 2008
    ..We present experimental data from a patient with unilateral optic ataxia (M.H.). First we document M.H...
  77. doi [Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature]
    M Anheim
    Clinique Neurologique, Hopital Civil, Centre Hospitalier Universitaire de Strasbourg, B P 426, 1, Place de l Hopital, 67091 Strasbourg Cedex, France
    Rev Neurol (Paris) 164:363-8. 2008
    The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a cerebellar ataxia autosomal recessively inherited characterized by an ataxic and pyramidal syndrome usually occurring near two years of age...
  78. doi Parietal modules for reaching
    A Blangero
    INSERM U864, Espace et Action, Bron, France
    Neuropsychologia 47:1500-7. 2009
    Optic ataxia (OA) is classically defined as a deficit of visually guided movements that follows lesions of the posterior part of the posterior parietal cortex (PPC)...
  79. doi Transglutaminase 6 antibodies in the diagnosis of gluten ataxia
    Marios Hadjivassiliou
    Departments of Neurology, Royal Hallamshire Hospital, Sheffield, UK
    Neurology 80:1740-5. 2013
    The previous finding of an immunologic response primarily directed against transglutaminase (TG)6 in patients with gluten ataxia (GA) led us to investigate the role of TG6 antibodies in diagnosing GA.
  80. pmc Anti transglutaminase antibodies cause ataxia in mice
    Sabrina Boscolo
    Department of Life Sciences, University of Trieste, Trieste, Italy
    PLoS ONE 5:e9698. 2010
    ..Amongst the neurological dysfunctions associated with CD, ataxia represents the most common one.
  81. pmc Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
    A Escayg
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Am J Hum Genet 66:1531-9. 2000
    ..mouse neurological mutant lethargic results in a complex neurological disorder that includes absence epilepsy and ataxia. To determine the role of the calcium-channel beta4-subunit gene CACNB4 on chromosome 2q22-23 in related human ..
  82. doi Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
    Bertrand Isidor
    Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes 7, quai Moncousu, 44000 Nantes Cedex, France
    Am J Med Genet A 152:175-80. 2010
    ..retardation, minor facial anomalies, short stature, delayed puberty, hypogonadism, relative macrocephaly, gait ataxia, and pes cavus, all manifestations described previously in patients with CUL4B point mutations...
  83. doi Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation
    Michael K Yoon
    Department of Ophthalmology, University of California, San Francisco, California 94143 0730, USA
    Invest Ophthalmol Vis Sci 50:1838-47. 2009
    This study was designed to assess the effect of mitochondrial DNA (mtDNA) mutation T8993C on cone structure in a family expressing neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome.
  84. ncbi Episodic ataxia results from voltage-dependent potassium channels with altered functions
    J P Adelman
    Vollum Institute, Oregon Health Sciences University, Portland 97201, USA
    Neuron 15:1449-54. 1995
    Episodic ataxia (EA) is an autosomal dominant human disorder that produces persistent myokymia and attacks of generalized ataxia. Recently, familial EA has been linked to the voltage-dependent delayed rectifier, Kv1.1, on chromosome 12...
  85. ncbi The aetiology of sporadic adult-onset ataxia
    M Abele
    Department of Neurology, University of Bonn, Germany
    Brain 125:961-8. 2002
    The nosology and aetiology of sporadic adult-onset ataxia are poorly understood...
  86. doi Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing
    R W Labrum
    MRC Centre for Neuromuscular Diseases, Institute of Neurology, UCL, London WC1N 3BG, UK
    J Med Genet 46:786-91. 2009
    Episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are autosomal dominant disorders characterised by paroxysmal ataxia and migraine, respectively...
  87. ncbi The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group
    C Kamm
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Hoppe Seyler Strasse 3, University of Tubingen, 72086 Tübingen, Germany
    Brain 128:1855-60. 2005
    The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such ..
  88. pmc Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1
    Susan E Tomlinson
    Institute of Neurology, University College London, London WC1N 3BG, UK
    Brain 133:3530-40. 2010
    Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene encoding the fast K(+) channel subunit K(v)1.1...
  89. ncbi Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine
    M Strupp
    Department of Neurology, University of Munich, Germany
    Neurology 62:1623-5. 2004
    Patients with episodic ataxia type 2 (EA2) can often be successfully treated with acetazolamide...
  90. ncbi Clinical spectrum of episodic ataxia type 2
    J Jen
    UCLA Neurology, 90095 1769, USA
    Neurology 62:17-22. 2004
    The authors searched for mutations in CACNA1A in patients with episodic ataxia and describe the clinical spectrum in genetically defined patients...
  91. ncbi Optic ataxia revisited: visually guided action versus immediate visuomotor control
    Yves Rossetti
    Espace et Action, Unité 534, Institut National de la Sante et de la Recherche Medicale, 16 Avenue Lepine, Case 13, 69676 Bron, France
    Exp Brain Res 153:171-9. 2003
    Optic ataxia and visual agnosia have been proposed to constitute a double dissociation which provides the main argument for the assimilation of the anatomical distinction between a dorsal and a ventral visual stream to the functional ..
  92. ncbi Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
    Subramaniam Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
    Hum Mol Genet 11:1251-62. 2002
    ..Neuronal degeneration and Lafora inclusion bodies predate the onset of impaired behavioral responses, ataxia, spontaneous myoclonic seizures and EEG epileptiform activity...
  93. pmc A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias
    M Strupp
    Department of Neurology, Friedrich Baur Institute and IFB LMU, University of Munich, Campus Grosshadern, Marchioninistr 15, 81377 Munich, Germany
    Neurology 77:269-75. 2011
    The therapeutic effects of 4-aminopyridine (4AP) were investigated in a randomized, double-blind, crossover trial in 10 subjects with familial episodic ataxia with nystagmus.
  94. pmc KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
    Markus Reichold
    Department of Physiology, University of Regensburg, 93053 Regensburg, Germany
    Proc Natl Acad Sci U S A 107:14490-5. 2010
    Mutations of the KCNJ10 (Kir4.1) K(+) channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome...
  95. ncbi A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
    Janghoo Lim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 125:801-14. 2006
    ..Many ataxia-causing proteins share interacting partners, a subset of which have been found to modify neurodegeneration in ..
  96. ncbi Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
    L A Pennacchio
    Department of Biological Sciences, Stanford University School of Medicine, California 94305 5120, USA
    Nat Genet 20:251-8. 1998
    ..We found that mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in the human disease...
  97. doi Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice
    Judith Blanz
    Biochemical Institute, University of Kiel, Kiel, Germany
    Hum Mol Genet 17:3437-45. 2008
    ..These data suggest that high-dose injections of low phosphorylated enzymes might be an interesting option to efficiently treat LSDs with CNS involvement...
  98. ncbi Delayed reaching and grasping in patients with optic ataxia
    A D Milner
    Cognitive Neuroscience Research Unit, Wolfson Research Institute, University of Durham, Queen s Campus, University Boulevard, Stockton on Tees TS17 6BH, UK
    Prog Brain Res 142:225-42. 2003
    A series of experiments documenting the reaching and grasping of two patients with optic ataxia is presented. We compare their immediate responses with their behavior when required to delay for a few seconds before responding...
  99. pmc Expression of truncated PrP targeted to Purkinje cells of PrP knockout mice causes Purkinje cell death and ataxia
    Eckhard Flechsig
    Institut fur Molekularbiologie, Universitat Zurich, CH 8057 Zurich, Switzerland
    EMBO J 22:3095-101. 2003
    ..mice with deletions extending upstream of the PrP-encoding exon (Nagasaki-type) suffer Purkinje cell loss and ataxia, associated with ectopic expression of Doppel in brain, particularly in Purkinje cells...
  100. ncbi A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation
    Claudio Graziano
    O di Genetica Medica, Dipartimento di Medicina Interna, Cardioangiologia ed Epatologia, Universita degli Studi di Bologna, Bologna, Italy
    Am J Med Genet A 143:1802-5. 2007
  101. ncbi Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
    Sebastien Jacquemont
    MIND Institute, University of California Davis Medical Center, Sacramento, USA
    JAMA 291:460-9. 2004
    ..The main clinical features described in this newly identified syndrome are cerebellar ataxia and intention tremor...

Research Grants78

  1. Principles of Therapy in Cerebellar Disease: Explorations in Ion Channel Mutants
    JOHN SAMUEL STAHL; Fiscal Year: 2013
    ..provided by applicant): Today's neurologists have few therapies to offer patients suffering the limb ataxia, imbalance, and visual impairment resulting from diseases of the cerebellum...
  2. Iron in the pathogenesis of Friedreich's ataxia
    ARNULF HANS WERNER KOEPPEN; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Friedreich's ataxia (FRDA) is due to homozygous transmission of guanine-adenine-adenine (GAA) trinucleotide repeat expansions in parental frataxin (FXN) genes. The result is deficiency of frataxin...
  3. Molecular mechanisms of lung disease in ataxia telangiectasia
    JoAnn M Sekiguchi; Fiscal Year: 2013
    PROJECT SUMMARY Ataxia-telangiectasia (A-T) is a rare, autosomal recessive human disorder characterized by cerebellar ataxia, immunodeficiency, cancer predisposition, recurrent sinopulmonary infections and chronic interstitial lung ..
  4. Exome re-sequencing candidate loci for familial essential tremor
    Barry E Kosofsky; Fiscal Year: 2012
    ..gene, feline leukemia virus subgroup C receptor 1 gene, as the cause of the Mendelian disorder, posterior column ataxia and retinitis pigmentosa, in three unrelated families by high density sequencing of the 4...
  5. Efficacy of GABAA a5 receptor inverse agonists in learning impaired rats
    EARL MICHAEL GIBBS; Fiscal Year: 2010
    ..a full agonist of the GABAA receptor but has a side-effect profile in patients that includes sedation, amnesia and ataxia. Nonselective BZ inverse agonists, like DMCM, are often anxiogenic and can cause seizures in animals...
  6. Targeting p53-Dependent Repigmentation in Vitiligo
    TAMARA G TERZIAN; Fiscal Year: 2013
    ..To accomplish this, she will use 2 mouse models: 1) The Sooty Foot Ataxia mouse model which expresses a high level of p53 and has a hyperpigmented skin;hyperpigmentation is the opposite ..
  7. 14th International Workshop on Ataxia-Telangiectasia and ATM
    Richard A Gatti; Fiscal Year: 2010
    Funds are requested for partial support towards the 14th International Workshop on Ataxia-Telangiectasia and ATM, which will be held at the Crowne Plaza Hotel in Redondo Beach, CA. on April 11-14, 2010...
  8. The function of ATM protein in the biology of the adult neuron CNS:
    Karl Herrup; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a profoundly destructive childhood disorder resulting from mutation of a gene encoding a member of the PI3 kinase family...
  9. Chromatin Modifications and Vulnerability to Glutamate Toxicity
    ALEXEI D KONDRATYEV; Fiscal Year: 2010
    ..such as Alzheimer's, Huntington's, and Parkinson's diseases, amyotrophic lateral sclerosis, ataxia telangiectasia and many other neurological disorders...
  10. Design and Synthesis of Anxioselective Anxiolytics
    James M Cook; Fiscal Year: 2010
    ..It is also active in primates in the conflict paradigm with no signs of muscle relaxation, or ataxia or sedation. The prodrug (2) of this anxiolytic agent exhibits a similar profile in rodents...
  11. MECHANISMS OF GASTROINTESTINAL GROWTH AND TRANSFORMATION
    Juanita L Merchant; Fiscal Year: 2013
    ..we found that the zinc finger transcription factor ZBP-89 interacts directly with the tumor suppressor protein ataxia telangiectasia mutated (ATM) in response to histone deacetylase inhibition (HDACi), e.g...
  12. Muscle stem cell therapy in a mouse model of premature aging
    Johnny Huard; Fiscal Year: 2010
    ..Both mice develop age-related pathologies including ataxia, kyphosis, cachexia, disc degeneration, osteoporosis, incontinence, epidermal atrophy, sarcopenia, bone marrow ..
  13. FASEB SRC on Mitochondrial Assembly &Dynamics in Health, Disease &Aging
    Antoni Barrientos; Fiscal Year: 2011
    ..most patients results from a defect in assembly and this can lead to a myriad of clinical phenotypes ranging from ataxia, seizures, blindness, myoclonus, dystonia, deafness, and diabetes...
  14. ATM Controls Genomic Stability in Pluripotent Stem Cells
    JASON MARK BECKTA; Fiscal Year: 2013
    ..Recently, data has arisen demonstrating that the ataxia telangiectasia-mutated (ATM) kinase mediates this checkpoint, conflicting with older reports which posit that ATM ..
  15. Development of a Porcine Model of Ataxia-Telangiectasia
    Christopher Rogers; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Ataxia-Telangiectasia (A-T) is a multi-systemic, recessively inherited disorder characterized primarily by early onset cerebellar ataxia and telangiectasia, from which the disease name is derived...
  16. Molecular physiology of voltage-gated Ca2+ channels
    Jian Yang; Fiscal Year: 2013
    ..Their mutations and malfunction cause a variety of diseases, including epilepsy, ataxia, cardiovascular diseases, and autism...
  17. Investigating the pathogenesis of CoQ10 deficiencies
    Catarina M Quinzii; Fiscal Year: 2013
    ..In addition, in a family with four individuals with cerebellar ataxia and CoQ10 deficiency, they identified a pathogenic mutation in the APTX gene, which encodes a protein involved in ..
  18. RNA polymerase II Elongation Complex: Structure and Function
    Daniel Reines; Fiscal Year: 2013
    ..of SEN1, SETX, is of biomedical importance since its dysfunction results in the neurodegenerative diseases Ataxia and Ocular Apraxia (AOA) type 2 and Amyotrophic Lateral Sclerosis (ALS) type 4...
  19. The Role of hPso4 in DNA Repair and Chemotherapy Resistance
    Montaser Shaheen; Fiscal Year: 2013
    ..hPso4 complex binds checkpoint protein Ataxia-Telangiectasia and Rad3-related (ATR)...
  20. Analysis of FIP200 in signal transduction
    Jun Lin Guan; Fiscal Year: 2012
    ..central nervous system as neural specific FIP200 conditional KO in mice resulted in cerebellar degeneration and ataxia, which are associated with progressive loss of Purkinje cells, spongiosis and increased apoptosis in the ..
  21. Development of a Porcine Model of Ataxia-Telangiectasia
    Christopher Rogers; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a multi-systemic, recessively inherited disorder that affects between 1 in 40,000 to 1 in 100,000 individuals worldwide...
  22. Cyclin-Dependent Kinase Inhibition During S Phase
    Geoffrey I Shapiro; Fiscal Year: 2013
    ..This work will focus on the interaction of cdks with DNA damage pathways. Cdks are major targets of ATM (ataxia-telangiectasia mutated) and ATR (ATM and Rad3-related) checkpoint cascades in response to DNA damage, and their ..
  23. GENETIC APPROACHES TO PROTEIN-NUCLEIC ACID INTERACTIONS
    Paul R Schimmel; Fiscal Year: 2012
    ..a specific tRNA synthetase was shown to cause neurodegeneration in mouse that, among other phenotypes, resulted in ataxia. This mild editing defect generated strong upregulation of the unfolded protein response and caused degeneration ..
  24. Optimization of KCa2 Channel Activators as Neuroscience Tools and Potential Drugs
    Heike Wulff; Fiscal Year: 2012
    ..been proposed for the treatment of CNS disorders that are characterized by hyperexcitability such as epilepsy, ataxia, and neuropathic pain...
  25. Spinocerebellar Ataxia Type 2 Gene and Gene Product
    Stefan M Pulst; Fiscal Year: 2012
    ..Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder leading to degeneration of neurons in the cerebellum and in other ..
  26. Improving ambulatory community access after paralysis
    Rudi Kobetic; Fiscal Year: 2012
    ..Being able to walk should significantly improve their quality of life by reducing their disability. ..
  27. The Ethics of Fragile X Genetic Screening and Testing Across the Lifespan
    Kruti Acharya; Fiscal Year: 2012
    ..Premutations cause premature ovarian failure and Fragile X Tremor Ataxia Syndrome in adults...
  28. The Role of PGC-1aplha in the Pathogenesis of Myotonic Dystrophy Type 1
    Xiang Fang; Fiscal Year: 2013
    ..3) aim 3 will explore the mechanism by which expanded CUG repeats cause a redox-dependent activation of Ataxia Telangiectasia- Mutated (ATM) kinase, phosphorylates and alters AMPK activity in DM1...
  29. Genetic Regulation of Rhombomere Formation
    CHARLES G SAGERSTROM; Fiscal Year: 2013
    ..agents and genetic conditions) that give rise to a range of birth defects - motor control problems such as ataxia, cognitive defects such as autism and craniofacial defects...
  30. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2012
    ..four clinical phenotypes: an encephalomyopathy, infantile encephalomyopathy with renal dysfunction, cerebellar ataxia, and pure myopathy. We have identified 38 patients from 33 families with CoQ10-deficiency...
  31. Kinetics of DNA polymerase gamma upon mutation and nucleoside analog exposure
    CHRISTAL DYANE SOHL; Fiscal Year: 2013
    ..death in early childhod, and progressive external ophthalmoplegia, an adult onset disorder which causes ptosis and ataxia and is usualy non-fatal...
  32. Recombination Repair Complex in Human Cells
    Richard Fishel; Fiscal Year: 2013
    ..of human cancers including hereditary breast cancer (BRCA1/2) as well as hematopoietic and other solid tumors (Ataxia telangiectasia mutated, ATM;Nijmegen Breakage syndrome, NBS;Fanconia Anemia, FANC;Bloom's syndrome, BLM), ..
  33. Targeting the DNA damage response pathway for the treatment of HSV esophagitis
    Oleg Alekseev; Fiscal Year: 2013
    ..pathways activated by HSV-1 is the DNA damage response (DDR), initiated by the phosphorylation of a sensor kinase ataxia telangiectasia mutated (ATM)...
  34. ATM, REACTIVE OXYGEN, AND CELLULAR RESPONSES TO HYPOXIA
    MICHAEL BARRY KASTAN; Fiscal Year: 2013
    ..Patients with mutated ATM genes have a devastating clinical disorder known as Ataxia-telangiectasia and have a variety of medical problems, including neurodegeneration, immunodeficiency, cancer ..
  35. Antisense oligonucleotides for the treatment of spinocerebellar ataxia type 2
    Daniel R Scoles; Fiscal Year: 2013
    ..The proposed work will identify a treatment for spinocerebellar ataxia type 2 (SCA2), a hereditary neurodegenerative disease affecting cerebellar Purkinje neurons (PNs) and other ..
  36. The amelioration of peroxisomal disorders due to defects in Pex10
    Lee A Niswander; Fiscal Year: 2013
    ..disease Zellweger syndrome that is lethal within six months of birth, to the progressive diseases of cerebellar ataxia and spinal ataxia...
  37. Regulation of mTORC1 signaling by mROS and ATM
    BROOKE ELIZABETH CHRISTIAN; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Ataxia-Telangiectasia (A-T) is caused by mutations in the ATM gene, which encodes the Ataxia-Telangiectasia Mutated kinase (ATM)...
  38. Mechanisms of ATM activation
    Tanya T Paull; Fiscal Year: 2013
    ..Loss of ATM, as seen in patients with Ataxia-Telangiectasia (A-T), results in increased genomic instability, a complete loss of double-strand break-induced ..
  39. Genome maintenance functions of CREB/ATF transcription factors
    RANDAL SCOT TIBBETTS; Fiscal Year: 2013
    ..We discovered that CREB is regulated by the ATM (ataxia-telangiectasia-mutated) protein kinase, which is a tumor suppressor protein that functions as master regulator of ..
  40. Targeted Degradation of DNA Damage Response Proteins by Autophagy
    Thomas J Begley; Fiscal Year: 2013
    ..Additionally, mTOR inhibition and the induction of autophagy have been linked to p53 and Ataxia-telangiectasia mutated (ATM) signaling after DNA damage...
  41. Mast cell actions in chronic progressive versus relapsing remitting EAE
    JULIANNE K HATFIELD; Fiscal Year: 2013
    ..Aim 2: To examine PMN/MC/Tcell interactions and activation of resident and infiltrating cells in the meninges during EAE. ..
  42. Trajectories and Markers of Neurodegeneration in Fragile X Premutation Carriers
    Susan M Rivera; Fiscal Year: 2013
    ..Furthermore, they are at risk for developing a neurodegenerative disease, fragile X-associated tremor ataxia syndrome (FXTAS), characterized by neurological manifestations of progressive gait ataxia, intention tremor, ..
  43. Joubert Syndrome Biennial Conference: Advancing Translational Ciliopathy Research
    DANIEL A DOHERTY; Fiscal Year: 2013
    ..by a distinctive hindbrain malformation (the "molar tooth sign") combined with hypotonia, developmental delay, ataxia, and variable features such as cystic renal disease, retinal dystrophy, hepatic fibrosis, and polydactyly...
  44. Coordination of orofacial and respiratory movements
    Detlef H Heck; Fiscal Year: 2012
    ..the precise temporal coordination between orofacial and respiratory movements is disrupted in mice with cerebellar ataxia. The coordination of orofacial and respiratory movements will be determined under different behavioral conditions ..
  45. CELL BIOLOGY OF THE NEURONAL SODIUM CHANNEL
    William A Catterall; Fiscal Year: 2013
    ..with all the features of DS, including susceptibility to thermally induced seizures and spontaneous seizures, ataxia, circadian rhythm and sleep disorders, cognitive deficit, autistic-like features, and premature death...
  46. The regulation and function of cytoplasmic foci in quiescent cells
    Paul K Herman; Fiscal Year: 2013
    ..in the pathology of neurological disorders, like amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia type 2...
  47. Human iPSC neuronal models for early and late phases of FXTAS neurodegeneration
    Paul J Hagerman; Fiscal Year: 2010
    ..of the pathogenic mechanism of a leading single-gene neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), using human neuronal cells reprogrammed from patient fibroblasts through induced pluripotent ..
  48. Genetic Analysis of Ataxia-telangiectasia
    DAVID WASSARMAN; Fiscal Year: 2012
    b>Ataxia-telangiectasia (A-T) is a recessive genetic disorder associated with progressive neurodegeneration...
  49. Tumor-cell-specific targets for combined hyperthermia and radiation effects
    Tej K Pandita; Fiscal Year: 2013
    ..In this grant application we propose to understanding how inactivation of ataxia-telangiectasia mutated (ATM) and telomerase could enhance heat mediated and IR-induced tumor cell killing...
  50. R15 AREA: Replication in the Presence of Oxidative DNA damage
    Justin Courcelle; Fiscal Year: 2012
    ..of human hereditary diseases, including Parkinsons, Alzhiemers, amyotrophic lateral sclerosis, Friedreich's ataxia, Fanconi anemia, and Cockayne syndrome...
  51. Mechanisms of Gene Silencing in Friedreich's Ataxia
    Joel M Gottesfeld; Fiscal Year: 2013
    ..aimed at furthering our understanding of the molecular basis for the neurodegenerative disease Friedreich's ataxia (FRDA), in the hope that this knowledge will lead to improved therapeutics for the disease...
  52. Jouberin and Nephrocystin in Joubert Syndrome
    Joseph G Gleeson; Fiscal Year: 2013
    ..Joubert syndrome (JS) is a ciliopathy, characterized by structural brain anomalies, mental retardation and ataxia, with frequent accompanying retinal blindness, renal failure, polydactyly and hepatic fibrosis...
  53. Mitochondrial Iron-Sulfur cluster mechanisms and therapy in Friedreich's ataxia
    Gino A Cortopassi; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Friedreich's ataxia (FRDA), is the most common autosomal recessive movement disorder, and cripples about 6000 Americans, and tens of thousands worldwide, and there is no approved therapy...
  54. 15th International Workshop on Ataxia-Telangiectasia and ATM to be held in India
    Tej K Pandita; Fiscal Year: 2012
    ..provided by applicant): Funds are requested for partial support towards the 15th International Workshop on Ataxia- Telangiectasia and ATM, (ATW2012) which wil be held at the India Habitat Center, Delhi, India (http://www...
  55. The Role of Sam68 in Synaptic Transmission and Plasticity
    Matthew Klein; Fiscal Year: 2013
    ..Two recent studies suggest that Sam68 is involved in the pathogenesis of Fragile X Tremor/Ataxia Syndrome, and Spinal Muscular Atrophy...
  56. Ataxia Telangiectasia in the CNS - Cause and Effect
    Margot Mayer Proschel; Fiscal Year: 2010
    b>Ataxia Telangiectasia (AT) is a genetic disorder that surprisingly manifests itself only in certain tissues...
  57. Spinocerebellar ataxia 7 protein function.
    Patrick A Grant; Fiscal Year: 2010
    ..In its pathological form, this protein is responsible for the neurodegenerative disease spinocerebellar ataxia 7 (SCA7)...
  58. ROLE OF Nna1 IN RETINAL AND CEREBELLAR DEGENERATION
    Albert R La Spada; Fiscal Year: 2013
    ..pcd) mouse is a recessive model of neurodegeneration, involving the retina and cerebellum, with a phenotype of ataxia and blindness...
  59. A Novel Neuroprotective Protein, Thorase
    Valina L Dawson; Fiscal Year: 2012
    ..epilepsy and Alzheimer's, which affect millions, to rare diseases such as amyotrophic lateral sclerosis and ataxia's...
  60. 2012 Iron Sulfur Enzymes Gordon Research Conference
    Markus W Ribbe; Fiscal Year: 2012
    ..been discovered since 2010, and there are no effective therapies for any of the diseases, including Friedreich ataxia, a disease characterized by progressive neurodegeneration and progressive heart failure...
  61. Investigating readout of cerebellar synchrony in delay eyeblink conditioning
    ALEXANDER D KLOTH; Fiscal Year: 2013
    ..The afflictions have classically involved motor disorders, such as cerebellar ataxia and cerebellar dystonia, but may also involve cognitive disorders that have well-known cerebellar anatomical ..
  62. ATM and DNA Damage in the Nervous System
    Peter J McKinnon; Fiscal Year: 2013
    ..The neurodegenerative syndrome ataxia telangiectasia (A-T), which results from loss of function of the DNA damage-signaling serine/threonine kinase ATM (..
  63. PHENCYCLIDINE: A BEHAVIORAL AND NEUROCHEMICAL STUDY
    Herbert Meltzer; Fiscal Year: 1980
    Rating scales were developed for quantification of locomotor activity, stereotyped behaviors and ataxia produced when PCP is administered to rats. PCP (0-15mg/kg, i...
  64. Non-Invasive Quantitation of Cellular and Biochemical Changes in Hereditary Ataxi
    GULIN OZ; Fiscal Year: 2009
    ..cerebellar and pons atrophy will be assessed by three-dimensional (3D) MRI and clinical severity by a quantitative ataxia rating scale...
  65. Mitochondrial Assembly and Dynamics in Health and Disease
    Carla Koehler; Fiscal Year: 2009
    ..the patients results from a defect in assembly and this can lead to a myriad of clinical phenotypes ranging from ataxia, seizures, blindness, myoclonus, dystonia, sideroblastic anemia, deafness, and diabetes...
  66. Glial Dysfunction in Ataxia Telangiectasia
    Margot Mayer Proschel; Fiscal Year: 2009
    ..focused on defining and characterizing a potentially novel cellular target that is affected in the genetic disease Ataxia telangiectasia (AT)...
  67. Role of ATM in Cardiac Myocyte Loss and Myocardial Remodeling
    Krishna Singh; Fiscal Year: 2009
    b>Ataxia telangiectasia (A-T) results from mutation of the ATM gene. Individuals with an ATM mutation in one allele are spared from most of the symptoms of the disease, but are more susceptible to cancer and ischemic heart disease...
  68. Coordination of Respiration with Deglutition & Phonation in Ataxia-Telangiectasia
    Maureen Lefton Greif; Fiscal Year: 2007
    ..Disruption of this linkage is a significant concern in diseases with oropharyngeal dysphagia. Ataxia-Telangiectasia (A-T) is a monogenic condition that causes progressive neurodegeneration and bulbar dysfunction, ..
  69. 12th International Workshop on Ataxia-Telangiectasia and ATM
    Richard Gatti; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder that affects approximately 1 in 40,000 to 1 in 100,000 live births...
  70. A Mouse Model of Mammalian Shaker Channel RNA Editing
    Tarun Bhalla; Fiscal Year: 2006
    ..Mutations in K+ channels have been reported to cause many neurological diseases. Episodic Ataxia / Myokymia Syndrome Type 1 (EA1) is the only human ataxia known to be caused by dysfunction of a K+ channel...
  71. Clinical Research Consortium for Spinocerebellar Ataxias
    Tetsuo Ashizawa; Fiscal Year: 2010
    ..We will focus on autosomal dominant spinocerebellar ataxia (SCA) 1, 2, 3 and 6, whose pathogenic mechanisms are becoming increasingly clear...
  72. Friedreich Ataxia High Throughput Drug Screening Assays
    Robert Wilson; Fiscal Year: 2004
    Friedreich's ataxia (FRDA) is an autosomal recessive, inherited neurodegenerative disorder...
  73. DNA STRAND BREAKS AND THE GENETIC BASIS OF LYMPHOMAS
    Gilbert Chu; Fiscal Year: 2001
    ..The signal for cell cycle arrest requires the ATM and p53 genes, which are mutated in at ataxia telangiectasia and Li-Fraumeni syndrome...
  74. Fragile X-associated Tremor/Ataxia Syndrome
    Paul Hagerman; Fiscal Year: 2009
    ..the identification of the mechanistic basis for a progressive neurological disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), which involves intention tremor, gait ataxia, and dementia, and affects at least 1/3 of males ..
  75. AUTOSOMAL DOMINANT ATAXIA
    Christopher Gomez; Fiscal Year: 2001
    ..advantage of a large database of SCA patients, and recent developments in both the genetics of autosomal dominant ataxia, and in the technology for recording and analyzing eye movements and the dynamic control of posture to address the ..
  76. MOLECULAR AND CELLULAR PHYSIOLOGY OF EPISODIC ATAXIA
    James Maylie; Fiscal Year: 2006
    Episodic Ataxia / Myokymia Syndrome Type 1 (EA1) is an inherited autosomal dominant human neurological disorder...
  77. In vivo Analysis of ATM-Regulated Pathways
    RANDAL SCOT TIBBETTS; Fiscal Year: 2011
    ..objectives of this application are to: (i) functionally characterize a signal transduction pathway linking ATM (ataxia-telangiectasia-mutated) to the cyclic AMP response element-binding protein (CREB) transcription factor;and (ii) ..
  78. Antioxidant Therapy for Ataxia Telangiectasia
    ROBERT SCHIESTL; Fiscal Year: 2009
    ATM (ataxia telangiectasia mutated) heterozygosity seems to be a risk factor for cancer...