cerebellar ataxia

Summary

Summary: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)

Top Publications

  1. pmc The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia
    Karina Alviña
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Neurosci 30:7258-68. 2010
  2. pmc Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Proc Natl Acad Sci U S A 107:20822-7. 2010
  3. pmc β- but not γ-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    EMBO Mol Med 4:171-9. 2012
  4. pmc Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich 81675, Germany
    Hum Mol Genet 21:2205-10. 2012
  5. ncbi Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    O Zhuchenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 15:62-9. 1997
  6. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
  7. ncbi Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia
    Joy T Walter
    Department of Neuroscience, Albert Einstein College of Medicine, 506 Kennedy Center, 1410 Pelham Parkway South, Bronx, New York 10461, USA
    Nat Neurosci 9:389-97. 2006
  8. pmc A new Kv1.2 channelopathy underlying cerebellar ataxia
    Gang Xie
    Samuel Lunenfeld Research Institute at Mount Sinai Hospital, Canada
    J Biol Chem 285:32160-73. 2010
  9. pmc Increased AβPP processing in familial Danish dementia patients
    Shuji Matsuda
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    J Alzheimers Dis 27:385-91. 2011
  10. pmc Autosomal recessive cerebellar ataxias
    Francesc Palau
    Genetics and Molecular Medicine Unit, Instituto de Biomedicina, CSIC, Jaume Roig, 11 46010 Valencia, Spain
    Orphanet J Rare Dis 1:47. 2006

Detail Information

Publications308 found, 100 shown here

  1. pmc The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia
    Karina Alviña
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Neurosci 30:7258-68. 2010
    Episodic ataxia type 2 (EA2) is a hereditary cerebellar ataxia associated with mutations in the P/Q-type voltage-gated calcium (Ca(2+)) channels. Therapeutic approaches for treatment of EA2 are very limited...
  2. pmc Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Proc Natl Acad Sci U S A 107:20822-7. 2010
    ..Together, the data suggest that clinical dementia in Danish patients occurs via a loss of function mechanism and not as a result of amyloidosis and tauopathy...
  3. pmc β- but not γ-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia
    Robert Tamayev
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    EMBO Mol Med 4:171-9. 2012
    ..Our data and the failures of anti-Aβ therapies in humans advise against targeting γ-secretase cleavage of APP and/or Aβ...
  4. pmc Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
    Juliane Winkelmann
    Institute of Human Genetics, Technische Universitat Munchen, Munich 81675, Germany
    Hum Mol Genet 21:2205-10. 2012
    Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy and dementia...
  5. ncbi Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    O Zhuchenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 15:62-9. 1997
    ..We conclude that a small polyglutamine expansion in the human alpha 1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6...
  6. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
    An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification in the Hutterite population...
  7. ncbi Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia
    Joy T Walter
    Department of Neuroscience, Albert Einstein College of Medicine, 506 Kennedy Center, 1410 Pelham Parkway South, Bronx, New York 10461, USA
    Nat Neurosci 9:389-97. 2006
    ..Our data support the hypothesis that the precision of intrinsic pacemaking in Purkinje cells is essential for motor coordination and suggest that K(Ca) channels may constitute a potential therapeutic target in EA2...
  8. pmc A new Kv1.2 channelopathy underlying cerebellar ataxia
    Gang Xie
    Samuel Lunenfeld Research Institute at Mount Sinai Hospital, Canada
    J Biol Chem 285:32160-73. 2010
    ..These results suggest that independent of known mutations in Kcna1 encoding Kv1.1, Kcna2 mutations may be important molecular correlates underlying human cerebellar ataxic disease...
  9. pmc Increased AβPP processing in familial Danish dementia patients
    Shuji Matsuda
    Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
    J Alzheimers Dis 27:385-91. 2011
    ....
  10. pmc Autosomal recessive cerebellar ataxias
    Francesc Palau
    Genetics and Molecular Medicine Unit, Instituto de Biomedicina, CSIC, Jaume Roig, 11 46010 Valencia, Spain
    Orphanet J Rare Dis 1:47. 2006
    ..5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common...
  11. pmc Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia
    Esther B E Becker
    Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford University, Oxford, UK
    J Neurol Neurosurg Psychiatry 83:437-40. 2012
    Relatively few studies have searched for potentially pathogenic antibodies in non-paraneoplastic patients with cerebellar ataxia.
  12. ncbi A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia
    R Zeng
    Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA
    J Vet Intern Med 25:267-72. 2011
    Bandera's neonatal ataxia (BNAt) is an autosomal recessive cerebellar ataxia that affects members of the Coton de Tulear dog breed.
  13. pmc Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
    Caroline Sevin
    Pediatric Neurology and Endocrinology, Hopital St Vincent de Paul, Paris, France
    Orphanet J Rare Dis 6:8. 2011
    To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).
  14. ncbi Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
    Alexandra Durr
    Université Pierre et Marie Curie Paris, Centre de Recherche de l Institut du Cerveau et de la Moelle Epiniere, UMR S975, Paris, France
    Lancet Neurol 9:885-94. 2010
    ..The diversity of underlying mechanisms that give rise to the dominant cerebellar ataxias need to be taken into account to identify therapeutic targets...
  15. pmc A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice
    Esther B E Becker
    Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom
    Proc Natl Acad Sci U S A 106:6706-11. 2009
    ..Here, we report a previously undescribed dominant mouse model of cerebellar ataxia, moonwalker (Mwk), that displays motor and coordination defects and loss of cerebellar Purkinje cells...
  16. ncbi Pathways to motor incoordination: the inherited ataxias
    Franco Taroni
    Laboratory of Cell Pathology, IRCCS Istituto Nazionale Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
    Nat Rev Neurosci 5:641-55. 2004
  17. ncbi Cerebellar cell degeneration in the leaner mutant mouse
    K Herrup
    Neuroscience 7:2185-96. 1982
    ..It is hoped that this developmental sketch of the leaner defect will stimulate others to approach leaner and its alleles, tottering and rolling, as models for heterogeneity of disease expression...
  18. ncbi Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
    R Allikmets
    Intramural Research Support Program, SAIC Frederick and Laboratory of Genomic Diversity, National Cancer Institute, Building 560, Room 21 18, Frederick Cancer Research and Development Center, Frederick, MD 21702 1201, USA
    Hum Mol Genet 8:743-9. 1999
    ..XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis...
  19. ncbi A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse
    Adrian M Isaacs
    Medical Research Council Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom
    J Neurosci 23:1631-7. 2003
    ..This function was not identified through knock-out studies, highlighting the power of phenotype-driven mutagenesis in the mouse to identify new pathways involved in neurological disease...
  20. doi Autosomal recessive cerebellar ataxias: the current state of affairs
    S Vermeer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    J Med Genet 48:651-9. 2011
    ..The clinical and genetic characteristics of those forms with a known molecular genetic defect are discussed, along with the emerging insights in the underlying pathophysiological mechanisms...
  21. ncbi Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis
    J Infante
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Acta Neurol Scand 111:391-9. 2005
    ..The genetic and clinical profile of autosomal dominant cerebellar ataxias (ADCA) displays marked geographical and ethnical variability...
  22. doi Cerebellar ataxias
    Mario Manto
    Fonds National de la Recherche Scientifique Neurologie, Laboratoire de Neurologie Expérimentale, ULB, Bruxelles, Belgium
    Curr Opin Neurol 22:419-29. 2009
    ..The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for effective therapies in neurodegenerative ataxias...
  23. ncbi Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
    Luis E Kolb
    Department of Neurosurgery, Neurobiology, Program on Neurogenetics Yale University School of Medicine, New Haven, CT, USA
    Neurogenetics 11:319-25. 2010
    ..Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and ..
  24. doi Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
    Mike Gerards
    Department of Genetics and Cell Biology, Unit Clinical Genomics Maastricht University, Maastricht, The Netherlands
    Mitochondrion 10:510-5. 2010
    ..Homozygosity mapping in a consanguineous family with three affected children with progressive cerebellar ataxia and atrophy revealed a candidate locus on chromosome 1, containing the CABC1/ADCK3 (the chaperone, ABC1 ..
  25. ncbi Sporadic cerebellar ataxia associated with gluten sensitivity
    K Burk
    Department of Neurology, University of Tubingen, Germany
    Brain 124:1013-9. 2001
    A total of 104 patients with sporadic cerebellar ataxia were tested for antigliadin and antiendomysium antibodies. Twelve individuals (11...
  26. ncbi Insulin-like growth factor I treatment for cerebellar ataxia: addressing a common pathway in the pathological cascade?
    A M Fernandez
    Laboratory of Neuroendocrinology, Cajal Institute, CSIC, Avda Dr Arce 37, 28002 Madrid, Spain
    Brain Res Brain Res Rev 50:134-41. 2005
    ..present work we review evidence supporting the use of insulin-like growth factor I (IGF-I) for treatment of cerebellar ataxia, a heterogeneous group of neurodegenerative diseases of low incidence but high societal impact...
  27. pmc Walking in circles: navigation deficits from Parkinson's disease but not from cerebellar ataxia
    C Paquette
    Department of Neurology, Oregon Health and Science University, 505 NW 185 Avenue, Beaverton, Portland, OR 97006, USA
    Neuroscience 190:177-83. 2011
    ..Our goal was to examine how Parkinson's disease (PD) and cerebellar ataxia, as human lesion models of the basal ganglia and cerebellum, affect spatial navigation round a circular ..
  28. ncbi Development and validation of the Unified Multiple System Atrophy Rating Scale (UMSARS)
    Gregor K Wenning
    Department of Neurology, University of Innsbruck, Austria
    Mov Disord 19:1391-402. 2004
    ..Based on our findings, the UMSARS appears to be a multidimensional, reliable, and valid scale for semiquantitative clinical assessments of MSA patients...
  29. ncbi Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency
    M Gironi
    Department of Neurology, Laboratory of Biology, University of Milan, Italy
    Neurology 62:818-20. 2004
    ..Both patients improved on high-dose CoQ10 supplementation, stressing the importance of CoQ10 deficiency in the differential diagnosis of cerebellar ataxia, even when onset is late.
  30. doi Immunohistochemical characterization of calcitonin gene-related peptide in the trigeminal system of the familial hemiplegic migraine 1 knock-in mouse
    Rammya Mathew
    University of California San Francisco, San Francisco, 1701 Divisadero St, San Francisco, CA 94115, USA
    Cephalalgia 31:1368-80. 2011
    ..Elevated calcitonin gene-related peptide (CGRP) levels in acute migraine and clinical trials using CGRP receptor antagonists suggest CGRP-related mechanisms are important in migraine...
  31. ncbi Neonatal cerebellar ataxia in Coton de Tulear dogs
    Joan R Coates
    Department of Veterinary Small Animal Medicine and Surgery, College of Veterinary Medicine Texas A and M University, College Station, TX 77843 4474, USA
    J Vet Intern Med 16:680-9. 2002
    ..An autosomal recessive trait affecting development of the cerebellum is suspected...
  32. pmc Impact of the leaner P/Q-type Ca2+ channel mutation on excitatory synaptic transmission in cerebellar Purkinje cells
    Shaolin Liu
    Department of Neurosciences, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 4975, USA
    J Physiol 586:4501-15. 2008
    Loss-of-function mutations in the gene encoding P/Q-type Ca(2+) channels cause cerebellar ataxia in mice and humans, but the underlying mechanism(s) are unknown...
  33. pmc CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
    Julie Mollet
    INSERM U781 and Department of Genetics, Hopital Necker Enfants Malades, Universite Rene Descartes Paris V, 149 rue de Sevres, 75015 Paris, France
    Am J Hum Genet 82:623-30. 2008
    ..All the missense mutations resulted in a respiratory phenotype with no or decreased growth on glycerol medium and a severe reduction in ubiquinone synthesis, demonstrating that these mutations alter the protein function...
  34. pmc Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraine
    B Fioretti
    Department of Biomedical Sciences, University of Padova and CNR Institute of Neuroscience, 35121 Padova, Italy
    J Physiol 589:5879-95. 2011
    ..Our findings suggest that the facilitation of peripheral mechanisms of CGRP action, such as dural vasodilatation and nociceptor sensitization at the meninges, does not contribute to the generation of headache in FHM1...
  35. ncbi Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry
    Martin Köllensperger
    Clinical Department of Neurology, Innsbruck Medical University, Austria
    Mov Disord 25:2604-12. 2010
    ..a Parkinson's Disease (PD)-like α-synucleinopathy clinically characterized by dysautonomia, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination...
  36. pmc Size of error affects cerebellar contributions to motor learning
    Sarah E Criscimagna-Hemminger
    Johns Hopkins University School of Medicine, 720 Rutland Ave, 416 Traylor Building, Baltimore, MD 21205, USA
    J Neurophysiol 103:2275-84. 2010
    ..The neural basis of motor learning in response to small and large errors appears to be distinct...
  37. ncbi Rare forms of autosomal recessive neurodegenerative ataxia
    Michel Koenig
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, Illkirch, France
    Semin Pediatr Neurol 10:183-92. 2003
    ..The rarer recessive ataxias can be clinically classified as sensory and spinocerbellar ataxias, cerebellar ataxia with sensory-motor polyneuropathy, and purely cerebellar ataxias...
  38. doi The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study
    Mark Wardle
    Dept of Neurology, Ophthalmology and Audiological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    J Neurol 256:343-8. 2009
    ..Furthermore, there is marked geographic and ethnic variation in the relative importance of these individual disorders and the cause of such observed variation remains unexplained...
  39. ncbi Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Nat Genet 37:1312-4. 2005
    ..that would disrupt the SIL1 protein in individuals with Marinesco-Sjögren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy...
  40. ncbi Mesenchymal stem cells rescue Purkinje cells and improve motor functions in a mouse model of cerebellar ataxia
    Jonathan Jones
    Neuroscience Institute, University Miguel Hernandez UMH CSIC, San Juan, Alicante, Spain
    Neurobiol Dis 40:415-23. 2010
    ..Of these, cerebellar ataxia is a group of disorders characterized by the degeneration of the cerebellum, particularly the Purkinje cells,..
  41. ncbi Cerebellar ataxia and central nervous system whipple disease
    Brandy R Matthews
    Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Arch Neurol 62:618-20. 2005
    ..Central nervous system symptoms are eventually present in as many as 43% of the cases. To our knowledge, cerebellar ataxia in WD has never been formally studied in any large series.
  42. pmc Hashimoto's encephalopathy presenting with progressive cerebellar ataxia
    H Nakagawa
    J Neurol Neurosurg Psychiatry 78:196-7. 2007
  43. doi Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation
    Amila Suraweera
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Hum Mol Genet 18:3384-96. 2009
    Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia...
  44. pmc Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    J Child Neurol 24:1310-5. 2009
    ..syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. Here, we report the first patient heterozygous for 2 novel mutations in VLDLR...
  45. ncbi Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity
    C F Fletcher
    Mouse Cancer Genetics Program, National Cancer Institute FCRDC, Frederick, Maryland 21702, USA
    FASEB J 15:1288-90. 2001
  46. ncbi Progression of multiple system atrophy (MSA): a prospective natural history study by the European MSA Study Group (EMSA SG)
    Felix Geser
    Clinical Department of Neurology, Innsbruck Medical University, Austria
    Mov Disord 21:179-86. 2006
    ..Our data contribute to the ongoing validation process of UMSARS, and they facilitate the planning and implementation of future neuroprotective intervention trials...
  47. pmc ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
    Clotilde Lagier-Tourenne
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, et Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France
    Am J Hum Genet 82:661-72. 2008
    ..All of the patients have childhood-onset cerebellar ataxia with slow progression, and three of six have mildly elevated lactate levels...
  48. ncbi Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients
    Setareh Shams'ili
    Department of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Brain 126:1409-18. 2003
    Paraneoplastic cerebellar degeneration (PCD) is a heterogeneous group of disorders characterized by subacute cerebellar ataxia, specific tumour types and (often) associated antineuronal antibodies...
  49. pmc CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait
    Seval Turkmen
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 5:e1000487. 2009
    ....
  50. ncbi Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background
    D B Campbell
    Department of Neuroscience and Anatomy, Pennsylvania State University College of Medicine, Hershey 17033, USA
    Exp Neurol 160:268-78. 1999
    ..These data suggest that the cerebellar cortex, where the mutant gene is abundantly expressed, contributes to the expression of tottering mouse dystonic episodes...
  51. ncbi Cerebellar cortical degeneration in three English bulldogs: clinical and neuropathological findings
    G Gandini
    Department of Veterinary Clinical Sciences, University of Bologna, Via Tolara di Sopra 50, 40064 Ozzano Emilia, Bologna, Italy
    J Small Anim Pract 46:291-4. 2005
    ..presented with clinical signs indicating progressive cerebellar dysfunction: a wide-based stance, severe cerebellar ataxia characterised by marked hypermetria, spasticity, and intention tremors of the head and trunk with loss of ..
  52. pmc The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    D H Geschwind
    Department of Neurology, University of California, Los Angeles, School of Medicine, 90095 1769, USA
    Am J Hum Genet 60:842-50. 1997
    ....
  53. ncbi Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
    S Bekri
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Blood 96:3256-64. 2000
    ..ABC7 gene was shown to be the defect in members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A)...
  54. ncbi Autosomal recessive cerebellar hypoplasia in the Hutterite population
    Hannah C Glass
    Division of Neurology, Alberta Children s Hospital, Calgary, Alberta, Canada
    Dev Med Child Neurol 47:691-5. 2005
    ..It usually manifests clinically as non-progressive cerebellar ataxia with or without mental retardation...
  55. ncbi Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a family
    H Takahashi
    Department of Pathology, Brain Research Institute, Niigata University, Asahimachi, Japan
    Acta Neuropathol 95:333-7. 1998
    ..We conclude that the pathological phenotype of this newly classified autosomal dominant cerebellar ataxia, SCA6, is cerebello-olivary atrophy, or more strictly cerebellar cortical atrophy.
  56. ncbi Endogenous estrogen formation is neuroprotective in model of cerebellar ataxia
    Amanda Sierra
    Instituto Cajal, C S I C, Madrid, Spain
    Endocrine 21:43-51. 2003
    ..The neuroprotective role of estradiol in the inferior olive was then assessed in a model of cerebellar ataxia, achieved by the ip administration of 3-acetylpyridine (3-AP)...
  57. ncbi Cerebellar cortical degeneration in adult American Staffordshire Terriers
    Natasha Olby
    Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, 4700 Hillsborough Street, Raleigh, NC 27606, USA
    J Vet Intern Med 18:201-8. 2004
    ..Many spinocerebellar ataxias in humans are caused by nucleotide repeats, and this genetic aberration merits investigation as a potential cause of the disease in American Staffordshire Terriers...
  58. pmc Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1
    K Ishikawa
    Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
    Am J Hum Genet 61:336-46. 1997
    Autosomal dominant cerebellar ataxia is a group of clinically and genetically heterogeneous disorders. We carried out genomewide linkage analysis in 15 families with autosomal dominant pure cerebellar ataxia (ADPCA)...
  59. ncbi X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
    A Maguire
    Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff, Wales, UK
    Br J Haematol 115:910-7. 2001
    ..An uncle affected by ataxia also carried this mutation. This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome...
  60. ncbi Pharmacological treatments of cerebellar ataxia
    Masafumi Ogawa
    Department of Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Cerebellum 3:107-11. 2004
    The confirmed pharmacological treatment of cerebellar ataxia is still lacking. In a recent preliminary trial, we showed that D-cycloserine, a partial NMDA allosteric agonist, may relieve the symptoms...
  61. ncbi Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A
    G Wiest
    Reed Neurological Research Center, Department of Neurology, UCLA School of Medicine, Los Angeles, California, USA
    Brain 124:2407-16. 2001
    ..of the whole body along the interaural axis, we examined the LVOR in six patients with hereditary cerebellar ataxia due to mutations of the calcium channel gene CACNA1A, five with spinocerebellar ataxia type 6 (SCA6) and one ..
  62. ncbi Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis
    Stefano D'Arrigo
    Developmental Neurology Department, Istituto Neurologico C Besta, Milan, Italy
    J Child Neurol 23:895-900. 2008
    ..apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy...
  63. pmc Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held
    Carlota Gonzalez Inchauspe
    Instituto de Fisiologia, Biología Molecular y Neurociencias, CONICET, Departamento de Fisiologia, Biologia Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
    J Neurophysiol 108:2967-76. 2012
    ..Faster recovery in R192Q KI mice was prevented by the calcium chelator EGTA-AM, pointing to enlarged residual calcium as a key factor in accelerating the replenishment of synaptic vesicles...
  64. doi Kinetic tremor and cerebellar ataxia as initial manifestations of Kikuchi-Fujimoto's disease
    Ju Sun Moon
    Department of Neurology, Pochon CHA University College of Medicine, South Korea
    J Neurol Sci 277:181-3. 2009
    ..This case of KFD involved unusual acute cerebellar symptoms. Selective involvement of the cerebellar system by viral or immunologic response may be attributed to acute cerebellar symptoms in KFD...
  65. pmc Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia
    Brent L Fogel
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA
    Mov Disord 27:442-6. 2012
    ..Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia...
  66. doi Low-titer anti-GAD-antibody-positive cerebellar ataxia
    Kazunori Nanri
    Department of Neurology, Tokyo Medical University Hachioji Medical Center, 1163 Tatemachi, Hachioji, Tokyo, 193 0998, Japan
    Cerebellum 12:171-5. 2013
    The majority of cases of anti-glutamic acid decarboxylase (GAD)-antibody-positive cerebellar ataxia are reported to have high levels of anti-GAD antibody, and the diagnostic value of low titers of anti-GAD antibody in a patient with ..
  67. pmc Candidate screening of the TRPC3 gene in cerebellar ataxia
    Esther B E Becker
    MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK
    Cerebellum 10:296-9. 2011
    ..Although many genetic mutations causing inherited cerebellar ataxia have been identified, a significant percentage of patients remain whose cause is unknown...
  68. ncbi [Steroid treatment in four cases of anti-GAD cerebellar ataxia]
    M Bonnan
    Service de Neurologie, Hopital Pierre Zobda Quitman, Centre Hospitalier Universitaire de Fort de France, B P 632, 97261 Fort de France Cedex, France
    Rev Neurol (Paris) 164:427-33. 2008
    ..b>Cerebellar ataxia is a new feature of this expanding spectrum. No therapeutic trial is yet available in these diseases...
  69. ncbi Gluten sensitivity: associated sporadic cerebellar ataxia in Taiwan
    Chin San Liu
    Department of Neurology, Vascular and Genomics Center, Changhua Christian Hospital, No 135, Nanhsiao Street, Changhua 500, Taiwan
    Acta Neurol Taiwan 19:263-9. 2010
    ..Gluten sensitivity (GS) is related to the pathogenesis of sporadic or hereditary ataxia...
  70. ncbi Cognitive impairments in patients with congenital nonprogressive cerebellar ataxia
    M Steinlin
    Division of Neurology, University Children s Hospital, Zurich, Switzerland
    Neurology 53:966-73. 1999
    To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia.
  71. pmc A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery
    Kaisa Kyöstilä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    PLoS Genet 8:e1002759. 2012
    ..The Finnish Hound suffers from an early-onset progressive cerebellar ataxia. We have performed clinical, pathological, and genetic studies to describe the disease phenotype and to ..
  72. ncbi Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation
    H Miyajima
    First Department of Medicine, Hamamatsu University School of Medicine, Japan
    Neurology 57:2205-10. 2001
    ..Heterozygous individuals with a partial ceruloplasmin deficiency may have normal iron metabolism and no clinical symptoms...
  73. doi Clinical, electrophysiological, and MRI findings in patients with cerebellar ataxia and a bilaterally pathological head-impulse test
    Hanni Kirchner
    Department of Neurology and IFB LMU Institute for Clinical Neurosciences, University Hospital Munich, Munich, Germany
    Ann N Y Acad Sci 1233:127-38. 2011
    A significant number of patients with bilateral vestibulopathy suffer from cerebellar ataxia and central vestibular symptoms and vice versa...
  74. pmc Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
    P F Worth
    Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
    Am J Hum Genet 65:420-6. 1999
    Autosomal dominant cerebellar ataxia type III (ADCA III) is a relatively benign, late-onset, slowly progressive neurological disorder characterized by an uncomplicated cerebellar syndrome...
  75. pmc Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia
    Mario U Manto
    Department of Medicine, Division of Metabolism, Endocrinology and Nutrition, University of Washington, Seattle, USA
    Orphanet J Rare Dis 6:3. 2011
    To investigate whether Stiff-person syndrome (SPS) and cerebellar ataxia (CA) are associated with distinct GAD65-Ab epitope specificities and neuronal effects.
  76. doi Isolated cerebellar ataxia: an early neurological complication of enteric fever
    P Dewan
    Department of Paediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India
    Ann Trop Paediatr 29:217-9. 2009
    ..Although central nervous system involvement is not uncommon in enteric fever, acute cerebellar ataxia as a presenting feature is rare...
  77. ncbi Autoantibodies in postinfectious acute cerebellar ataxia
    Ayumi Uchibori
    Department of Neurology, School of Medicine, Kyorin University, Mitaka, Tokyo 181 8611, Japan
    Neurology 65:1114-6. 2005
    The authors found serum immunoglobulin M (IgM) autoantibody in a patient with typical acute cerebellar ataxia (ACA) and identified the antigen molecule as triosephosphate isomerase (TPI)...
  78. pmc Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study
    Nichola Zoe Lax
    Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom
    J Neuropathol Exp Neurol 71:148-61. 2012
    b>Cerebellar ataxia is a prominent clinical symptom in patients with mitochondrial DNA (mtDNA) disease. This is often progressive with onset in young adulthood...
  79. ncbi Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult
    Kerrie L Schoffer
    Department of Neurology, Royal Brisbane and Women s Hospital, Brisbane, Australia
    Mov Disord 21:869-72. 2006
    ..We report a previously undiagnosed adult male who presented with early-onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, ..
  80. doi Posterior fossa imaging in 158 children with ataxia
    N Boddaert
    Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, AP HP, Paris V, Paris, France
    J Neuroradiol 37:220-30. 2010
    To propose a MRI cerebellar algorithm that may be applied to guide genetic/malformative or biochemical investigations for patients with cerebellar ataxia.
  81. ncbi Coeliac disease in patients with cerebellar ataxia of unknown origin
    L K Luostarinen
    Department of Neurology, Tampere University Hospital, Finland
    Ann Med 33:445-9. 2001
    ..Neurological symptoms of unknown origin are common in coeliac disease (CD). Evidence suggests that CD may also contribute to the development of idiopathic late-onset ataxia...
  82. ncbi Acute cerebellar ataxia due to Sjögren syndrome
    S Wong
    Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA
    Neurology 62:2332-3. 2004
  83. doi Mapping cerebellar abiotrophy in Australian Kelpies
    J R Shearman
    School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia
    Anim Genet 42:675-8. 2011
    ..Microsatellite markers were developed in the candidate region for linkage analysis that resulted in a logarithm of odds score suggestive of linkage. The candidate region contains 29 genes, none of which are known to cause ataxia...
  84. ncbi Late-onset progressive spinocerebellar degeneration in Brittany Spaniel dogs
    R J Higgins
    Department of Pathology, Microbiology and Immunology, School of Veterinary Medicine, University of California, Davis, 95616, USA
    Acta Neuropathol 96:97-101. 1998
    ..the dogs had a dramatic forward "saluting" movement of the thoracic limbs, hypermetria of the pelvic limbs, cerebellar ataxia and intention tremors. Terminally, dogs crawled in a crouched thoracic posture with neck extension...
  85. ncbi The ataxic Syrian hamster: an animal model homologous to the pcd mutant mouse?
    Kenji Akita
    Biomedical Institute, Research Center, Hayashibara Biochemical Laboratories, Inc, Okayama 702 8006, Japan
    Cerebellum 8:202-10. 2009
    A spontaneous model of cerebellar ataxia in the Syrian hamster is described. Breeding data indicate that the condition is hereditary and that the mode of inheritance is autosomal recessive...
  86. ncbi Falls in degenerative cerebellar ataxias
    Bart P C van de Warrenburg
    Department of Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Mov Disord 20:497-500. 2005
    ..Clinicians should be aware of this problem in ataxia patients and should try to prevent falls...
  87. pmc Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene
    Sergey V Ivanov
    Basic Research Program, Science Applications International Corporation Frederick, Inc, National Cancer Institute at Frederick, Frederick, Maryland, USA
    Am J Pathol 165:1007-18. 2004
    ....
  88. ncbi FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
    A Brussino
    Dipartimento di Genetica, Biologia e Biochimica, Università degli Studi di Torinoand S C Genetica Medica, Ospedale San Giovanni Battista di Torino, Turin, Italy
    Neurology 64:145-7. 2005
    In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1 gene premutation...
  89. ncbi Asymmetric cerebellar ataxia and limbic encephalitis as a presenting feature of primary Sjögren's syndrome
    Kiren Collison
    J Neurol 254:1609-11. 2007
  90. ncbi Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening
    S Vermeer
    Dept of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Neurol 254:1356-8. 2007
    b>Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I)...
  91. ncbi Excellent response to steroid treatment in anti-GAD cerebellar ataxia
    Giuseppe Lauria
    Department of Clinical Neurosciences, University of Brescia, Italy
    Lancet Neurol 2:634-5. 2003
  92. ncbi A case report of plasmapheresis in paraneoplastic cerebellar ataxia associated with anti-Tr antibody
    Yoshihiko Taniguchi
    Division of Blood Purification, Hiroshima University Hospital, Hiroshima, Japan
    Ther Apher Dial 10:90-3. 2006
    ..patient was admitted to the Hiroshima University Hospital in August 2001, with a history of progressive cerebellar ataxia, notable by standing and gait disturbances...
  93. ncbi [A new case of cerebellar ataxia with anti-GAD antibodies treated with corticosteroids and initially seronegative]
    B Birand
    Service de Neurologie, hôpital Pierre Zobda Quitmann, CHU de Fort de France, 97261 Fort de France, France
    Rev Med Interne 27:616-9. 2006
    b>Cerebellar ataxia with antiglutamic acid decarboxylase antibodies (GAD-ab) is an exceptional newly recognized autoimmune disorder...
  94. pmc Selective loss of Purkinje cells in a patient with anti-glutamic acid decarboxylase antibody-associated cerebellar ataxia
    Kazuyuki Ishida
    Department of Neurology, Tamagawa Hospital, Setagaya Ku, Tokyo, Japan
    J Neurol Neurosurg Psychiatry 78:190-2. 2007
    Anti-glutamic acid decarboxylase antibody is associated with the development of progressive cerebellar ataxia and slowly progressive insulin-dependent diabetes mellitus...
  95. pmc Population based study of late onset cerebellar ataxia in south east Wales
    M B Muzaimi
    Department of Medicine, University Hospital of Wales, Cardiff, UK
    J Neurol Neurosurg Psychiatry 75:1129-34. 2004
    To determine the prevalence and causation of late onset cerebellar ataxia (LOCA) in south east Wales, United Kingdom.
  96. ncbi Cerebellar ataxia associated with anti-glutamic acid decarboxylase autoantibodies
    M Vianello
    Department of Neurological and Psychiatric Sciences, University of Padova, Italy
    Cerebellum 2:77-9. 2003
    ..to glutamic acid decarboxylase (GAD-Ab) in the serum and cerebrospinal fluid (CSF) of patients with cerebellar ataxia. Most of these cases are females with Polyglandular Autoimmune Disorder who develop a chronic cerebellar ..
  97. ncbi Locomotor training using body-weight support on a treadmill in conjunction with ongoing physical therapy in a child with severe cerebellar ataxia
    Kristin Cernak
    Division of Physical Therapy, Department of Rehabilitation Medicine, University of Washington Medical Center, 1959 NE Pacific St, Seattle, WA 98195, USA
    Phys Ther 88:88-97. 2008
    ..body-weight support (BWS) on a treadmill and during overground walking on mobility in a child with severe cerebellar ataxia who was nonambulatory...
  98. doi Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis
    David J Szmulewicz
    Department of Neuroscience, Alfred Hospital, Melbourne, Australia
    Ann N Y Acad Sci 1233:139-47. 2011
    The association of bilateral vestibulopathy with cerebellar ataxia was first reported in 1991 and delineated as a distinct syndrome with a characteristic and measurable clinical sign--an absent visually enhanced vestibulo-ocular reflex--..
  99. ncbi Genetic background of apparently idiopathic sporadic cerebellar ataxia
    L Schols
    Neurologische Klinik der Ruhr Universität, St Josef Hospital, Bochum, Germany
    Hum Genet 107:132-7. 2000
    ..SCA6 is the most frequent mutation in late onset cerebellar ataxia. The frataxin trinucleotide expansion should be investigated in all sporadic ataxia patients with onset ..
  100. ncbi Presynaptic impairment of cerebellar inhibitory synapses by an autoantibody to glutamate decarboxylase
    H Mitoma
    Mitoma Neurological Clinic, 1-2-10 Minami-Ikebukuro, Toshima-ku, Tokyo, Japan
    J Neurol Sci 175:40-4. 2000
    ..to gamma-aminobutyric acid (GABA), is a target of humoral autoimmunity in stiff-man syndrome and subacute cerebellar ataxia. Recently, we found that an anti-GAD autoantibody in the CSF of an ataxic patient selectively suppressed ..
  101. doi Cerebellar ataxia following prolonged use of metronidazole: case report and literature review
    Kalpeshkumar Patel
    Department of Internal Medicine, Monmouth Medical Center, 300 Second Avenue, Long Branch, NJ 07740, USA
    Int J Infect Dis 12:e111-4. 2008
    ..Discontinuation of metronidazole almost always results in resolution of symptoms and structural lesions...

Research Grants88

  1. FUNCTION OF MIDBRAIN STRUCTURES IN EYE MOVEMENT CONTROL
    DAVID WAITZMAN; Fiscal Year: 2005
    ..These results also imply that examining the remembered saccades of patients with PSP may lead to earlier and more reliable diagnosis and permit better monitoring of therapeutic interventions. ..
  2. Coordination of orofacial and respiratory movements
    Detlef H Heck; Fiscal Year: 2010
    ..that 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 ..
  3. Coordination of orofacial and respiratory movements
    Detlef Heck; Fiscal Year: 2009
    ..that 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 ..
  4. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2010
    ..with 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...
  5. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2009
    ..with 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...
  6. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2011
    ..with 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...
  7. 15th International Workshop on Ataxia-Telangiectasia and ATM to be held in India
    Tej K Pandita; Fiscal Year: 2012
    ..Ataxia-telangiectasia (A-T) is a complex autosomal recessive disorder that is characterized by a progressive cerebellar ataxia, telangiectasia, immunodeficiency, genomic instability, ionizing radiation sensitivity, and a markedly ..
  8. 15th International Workshop on Ataxia-Telangiectasia and ATM to be held in India
    Tej K Pandita; Fiscal Year: 2011
    ..Ataxia-telangiectasia (A-T) is a complex autosomal recessive disorder that is characterized by a progressive cerebellar ataxia, telangiectasia, immunodeficiency, genomic instability, ionizing radiation sensitivity, and a markedly ..
  9. Molecular Pathogenesis of Coenzyme Q10 Deficiency
    Michio Hirano; Fiscal Year: 2012
    ..with 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...
  10. Development of a Porcine Model of Ataxia-Telangiectasia
    Christopher Rogers; Fiscal Year: 2012
    ..It is characterized primarily by early onset cerebellar ataxia and telangiectasia, from which the disease name is derived...
  11. 12th International Workshop on Ataxia-Telangiectasia and ATM
    Richard Gatti; Fiscal Year: 2006
    ..A-T is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency, chromosomal instability, radiation sensitivity and increased incidence of ..
  12. Immune reactivity to synapsin in the neuropathy and ataxia of celiac disease
    Armin Alaedini; Fiscal Year: 2007
    ..synapsin I and that the immune reactivity is associated with neurologic deficits in celiac disease, such as cerebellar ataxia or peripheral neuropathy...
  13. FUNCTION OF MIDBRAIN STRUCTURES IN EYE MOVEMENT CONTROL
    DAVID WAITZMAN; Fiscal Year: 2001
    ..These results also imply that examining the remembered saccades of patients with PSP may lead to earlier and more reliable diagnosis and permit better monitoring of therapeutic interventions. ..
  14. FUNCTION OF MIDBRAIN STRUCTURES IN EYE MOVEMENT CONTROL
    DAVID WAITZMAN; Fiscal Year: 2002
    ..These results also imply that examining the remembered saccades of patients with PSP may lead to earlier and more reliable diagnosis and permit better monitoring of therapeutic interventions. ..
  15. FUNCTION OF MIDBRAIN STRUCTURES IN EYE MOVEMENT CONTROL
    DAVID WAITZMAN; Fiscal Year: 2000
    ..These results also imply that examining the remembered saccades of patients with PSP may lead to earlier and more reliable diagnosis and permit better monitoring of therapeutic interventions. ..
  16. FUNCTION OF MIDBRAIN STRUCTURES IN EYE MOVEMENT CONTROL
    DAVID WAITZMAN; Fiscal Year: 1999
    ..These results also imply that examining the remembered saccades of patients with PSP may lead to earlier and more reliable diagnosis and permit better monitoring of therapeutic interventions. ..
  17. Investigating readout of cerebellar synchrony in delay eyeblink conditioning
    ALEXANDER D KLOTH; Fiscal Year: 2012
    ..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 ..
  18. Mechanisms of Calcium-Calmodulin Mediated Ion Channel Gating
    Richard Aldrich; Fiscal Year: 2011
    ..SK channels are important for a wide range of physiological systems, and are involved in cerebellar ataxia, epilepsy and learning and memory...
  19. project 4 - Autonomic Rare Diseases Clinical Research Consortium
    Phillip Low; Fiscal Year: 2009
    ..characterized by autonomic failure, with orthostatic hypotension, neurogenic bladder/erectile dysfunction, cerebellar ataxia, corticospinal dysfunction, plus parkinsonism or cerebellar degeneration...
  20. Characterizing Beta Lactams/Neuroprotective Drugs/ALS
    Jeffrey Rothstein; Fiscal Year: 2005
    ..function of various molecular subtypes of this transporter family is associated with brain tumor growth, cerebellar ataxia, multiple sclerosis and epilepsy...
  21. Characterizing Beta Lactams/Neuroprotective Drugs/ALS
    Jeffrey Rothstein; Fiscal Year: 2006
    ..function of various molecular subtypes of this transporter family is associated with brain tumor growth, cerebellar ataxia, multiple sclerosis and epilepsy...
  22. Characterizing Beta Lactams as Neuroprotectants for Amyotrophic Lateral Sclerosis
    Jeffrey Rothstein; Fiscal Year: 2009
    ..function of various molecular subtypes of this transporter family is associated with brain tumor growth, cerebellar ataxia, multiple sclerosis and epilepsy...
  23. Characterizing Beta Lactams as Neuroprotectants for Amyotrophic Lateral Sclerosis
    Jeffrey D Rothstein; Fiscal Year: 2010
    ..function of various molecular subtypes of this transporter family is associated with brain tumor growth, cerebellar ataxia, multiple sclerosis and epilepsy...
  24. 14th International Workshop on Ataxia-Telangiectasia and ATM
    Richard A Gatti; Fiscal Year: 2010
    ..Ataxia-telangiectasia (A-T) is a complex autosomal recessive disorder that is characterized by a progressive cerebellar ataxia, telangiectasia, immunodeficiency, genomic instability, radiation sensitivity, and a markedly increased ..
  25. Models and Devices for Coordination Rehabilitation
    Allison Okamura; Fiscal Year: 2009
    ....
  26. CELLULAR RESPONSES TO UV-LIGHT IN ATAXIA TELANGIECTASIA
    Kathleen Dixon; Fiscal Year: 2000
    ..A-T is an autosomal recessive human genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, enhanced sensitivity to ionizing radiation and increased cancer risk...
  27. CELLULAR RESPONSES TO UV-LIGHT IN ATAXIA TELANGIECTASIA
    Kathleen Dixon; Fiscal Year: 2001
    ..A-T is an autosomal recessive human genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, enhanced sensitivity to ionizing radiation and increased cancer risk...
  28. CELLULAR RESPONSES TO UV-LIGHT IN ATAXIA TELANGIECTASIA
    Kathleen Dixon; Fiscal Year: 2002
    ..A-T is an autosomal recessive human genetic disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, enhanced sensitivity to ionizing radiation and increased cancer risk...
  29. Ocular motor control and MRI in hereditary ataxia
    Sarah Ying; Fiscal Year: 2005
    ..David Zee, who has expertise in clinical, ocular motor, and control-systems characterization of cerebellar ataxia syndromes as well as experience in structural and functional MR imaging of the ocular motor system. Dr...
  30. Ocular motor control and MRI in hereditary ataxia
    Sarah Ying; Fiscal Year: 2009
    ..David Zee, who has expertise in clinical, ocular motor, and control-systems characterization of cerebellar ataxia syndromes as well as experience in structural and functional MR imaging of the ocular motor system. Dr...
  31. Ocular motor control and MRI in hereditary ataxia
    Sarah Ying; Fiscal Year: 2006
    ..David Zee, who has expertise in clinical, ocular motor, and control-systems characterization of cerebellar ataxia syndromes as well as experience in structural and functional MR imaging of the ocular motor system. Dr...
  32. Ocular motor control and MRI in hereditary ataxia
    Sarah Ying; Fiscal Year: 2007
    ..David Zee, who has expertise in clinical, ocular motor, and control-systems characterization of cerebellar ataxia syndromes as well as experience in structural and functional MR imaging of the ocular motor system. Dr...
  33. Molecular mechanisms of lung disease in ataxia telangiectasia
    JoAnn M Sekiguchi; Fiscal Year: 2011
    ..by applicant): 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 ..
  34. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2002
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthria and nystagmus...
  35. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 1999
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthria and nystagmus...
  36. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2000
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthria and nystagmus...
  37. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2003
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthria and nystagmus...
  38. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2001
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthria and nystagmus...
  39. FUNCTION OF THE ATAXIA TELANGIECTASIA GENE PRODUCT
    Lewis Cantley; Fiscal Year: 2002
    ..A-T) is an autosomal recessive, pleiotrophic human disorder characterized by progressive neurodegenerative cerebellar ataxia, radiosensitivity, immunodeficiencies, telangiectases of eyes and skin, a greatly enhanced predisposition ..
  40. FUNCTION OF THE ATAXIA TELANGIECTASIA GENE PRODUCT
    GARY RATHBUN; Fiscal Year: 2001
    ..A-T) is an autosomal recessive, pleiotrophic human disorder characterized by progressive neurodegenerative cerebellar ataxia, radiosensitivity, immunodeficiencies, telangiectases of eyes and skin, a greatly enhanced predisposition ..
  41. FUNCTION OF THE ATAXIA TELANGIECTASIA GENE PRODUCT
    GARY RATHBUN; Fiscal Year: 2000
    ..A-T) is an autosomal recessive, pleiotrophic human disorder characterized by progressive neurodegenerative cerebellar ataxia, radiosensitivity, immunodeficiencies, telangiectases of eyes and skin, a greatly enhanced predisposition ..
  42. FUNCTION OF THE ATAXIA TELANGIECTASIA GENE PRODUCT
    GARY RATHBUN; Fiscal Year: 1999
    ..A-T) is an autosomal recessive, pleiotrophic human disorder characterized by progressive neurodegenerative cerebellar ataxia, radiosensitivity, immunodeficiencies, telangiectases of eyes and skin, a greatly enhanced predisposition ..
  43. Role of Nucleo-cytoskeleton Interactions in Cell Migration
    Gregg G Gundersen; Fiscal Year: 2011
    ..positioning pathways cause a number of human diseases, including muscular dystrophies, cardiomyopathies, cerebellar ataxia and lissencephaly, these studies will also provide new avenues for understanding human disease and ..
  44. STUDY OF THE PROTEIN IN MINK ENCEPHALOPATHY
    Richard Marsh; Fiscal Year: 1991
    ..has an incubation period of sixty-five days and has the predominant clinical signs of hyperesthesia and cerebellar ataxia. The second syndrome has an incubation period of 160 days and is clinically characterized by lethargy with ..
  45. MYOINOSITOL ON CEREBELLAR FUNCTION IN PATIENTS WITH ATAXIA TELANGIECTASIA
    Gerard Berry; Fiscal Year: 1999
    The autosomal recessive disorder, Ataxia Telangiectasia (AT), results in cerebellar ataxia, immunodeficiency and cancer...
  46. Gene therapy for Ataxia Telangiectasia
    Miguel Esteves; Fiscal Year: 2009
    ..A-T is characterized by cerebellar ataxia, retinal telangiectasia, immunodeficiency, radiosensitivity, infertility, predisposition to malignancies and ..
  47. CLINICAL /LABORATORY MARKER PREDICTION OF OUTCOMES IN MSA & PD
    Phillip Low; Fiscal Year: 2003
    ..disorder characterized clinically by the combination of varying degrees of Parkinsonism and/or cerebellar ataxia, autonomic dysfunction and an inexorable progression to death in a few years, whereas Parkinson's disease (..
  48. COMPLEMENTATION OF THE NIJMEGEN BREAKAGE SYNDROME DEFECT
    CORDULA KIRCHGESSNER; Fiscal Year: 1999
    ..Patients affected by NBS do not display cerebellar ataxia or telangiectasia, two prominent symptoms in Ataxia telangiectasia patients...
  49. A research and clinical tool for connectivity-based analysis of brainstem anatomy
    Sarah Ying; Fiscal Year: 2009
    ..RELEVANCE: Project narrative Neurodegenerative diseases, such as Alzheimer's, Parkinson's, and cerebellar ataxia, have a devastating impact on many lives...
  50. CHARACTERIZATION OF HEREDITARY CEREBELLAR ATAXIA
    DANIEL TOLBERT; Fiscal Year: 1991
    ..Purkinje cell degeneration in humans has been associated with hereditary cerebellar ataxia, alcohol intoxication, certain neoplasias, and aging...
  51. SK Channel Openers as Therapeutics for Cerebellar Ataxia
    Heike Wulff; Fiscal Year: 2006
    b>Cerebellar ataxia is a lethal neurological disease, which afflicts about 150,000 people in the US. There are currently no known preventive, neuroprotective or symptomatic treatments for this devastating disease...
  52. SK Channel Openers as Therapeutics for Cerebellar Ataxia
    Heike Wulff; Fiscal Year: 2007
    b>Cerebellar ataxia is a lethal neurological disease, which afflicts about 150,000 people in the US. There are currently no known preventive, neuroprotective or symptomatic treatments for this devastating disease...
  53. SK Channel Openers as Therapeutics for Cerebellar Ataxia
    Heike Wulff; Fiscal Year: 2005
    b>Cerebellar ataxia is a lethal neurological disease, which afflicts about 150,000 people in the US. There are currently no known preventive, neuroprotective or symptomatic treatments for this devastating disease...
  54. Investigating the pathogenesis of CoQ10 deficiencies
    Catarina M Quinzii; Fiscal Year: 2012
    ..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 ..
  55. Investigating the pathogenesis of CoQ10 deficiencies
    Catarina M Quinzii; Fiscal Year: 2010
    ..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 ..
  56. MITOCHONDRIAL PROTEIN SYNTHESIS AND HERITABLE DISEASE
    CAROL IRWIN; Fiscal Year: 1980
    ..g., Leigh's disease, congenital lactic acidosis, and cerebellar ataxia; and cerebro-hepato-renal syndrome...
  57. GENE THERAPY FOR METABOLIC DISORDERS
    Chester Whitley; Fiscal Year: 2005
    ..Gene therapy for cerebellar ataxia (Mclvor) explores methods to inactivate a detrimental mutant gene in the brain...
  58. GENE THERAPY FOR METABOLIC DISORDERS
    Chester Whitley; Fiscal Year: 2007
    ..Gene therapy for cerebellar ataxia (Mclvor) explores methods to inactivate a detrimental mutant gene in the brain...
  59. GENE THERAPY FOR METABOLIC DISORDERS
    Chester Whitley; Fiscal Year: 2004
    ..Gene therapy for cerebellar ataxia (Mclvor) explores methods to inactivate a detrimental mutant gene in the brain...
  60. GENE THERAPY FOR METABOLIC DISORDERS
    Chester Whitley; Fiscal Year: 2006
    ..Gene therapy for cerebellar ataxia (Mclvor) explores methods to inactivate a detrimental mutant gene in the brain...
  61. ANALYSIS AND TREATMENT OF CEREBELLAR ATAXIA
    Amy Bastian; Fiscal Year: 2000
    ....
  62. ANALYSIS AND TREATMENT OF CEREBELLAR ATAXIA
    Amy Bastian; Fiscal Year: 2001
    ....
  63. ANALYSIS AND TREATMENT OF CEREBELLAR ATAXIA
    Amy Bastian; Fiscal Year: 2000
    ....
  64. Structures and functions of the human Josephin domain-containing proteins
    PATRICK LOLL; Fiscal Year: 2009
    ..is ataxin-3, a polyglutamine protein and the causative agent of the most common inherited ataxia, spinal cerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease)...
  65. ANALYSIS AND TREATMENT OF CEREBELLAR ATAXIA
    Amy Bastian; Fiscal Year: 1999
    ....
  66. Structures and functions of the human Josephin domain-containing proteins
    Patrick J Loll; Fiscal Year: 2010
    ..is ataxin-3, a polyglutamine protein and the causative agent of the most common inherited ataxia, spinal cerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease)...
  67. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry T Orr; Fiscal Year: 2010
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthda and nystagmuso...
  68. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2004
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthda and nystagmuso...
  69. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2005
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthda and nystagmuso...
  70. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2006
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthda and nystagmuso...
  71. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2009
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthda and nystagmuso...
  72. MOLECULAR GENETICS OF THE SCA1 LOCUS
    Harry Orr; Fiscal Year: 2007
    Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthda and nystagmuso...
  73. Automatic Cerebellar MRI Labeling in Health and Disease
    Jerry L Prince; Fiscal Year: 2010
    ..cerebellum, as can more specific diseases of the cerebellum such as olivopontine cerebellar degeneration or cerebellar ataxia. These conditions may be associated with a host of disabling medical conditions, including gait and balance ..
  74. MYOINOSITOL ON CEREBELLAR FUNCTION IN PATIENTS WITH ATAXIA TELANGIECTASIA
    Gerard Berry; Fiscal Year: 1999
    The autosomal recessive disorder, Ataxia Telangiectasia (AT), results in cerebellar ataxia, immunodeficiency and cancer...
  75. MYOINOSITOL ON CEREBELLAR FUNCTION IN PATIENTS WITH ATAXIA TELANGIECTASIA
    Gerard Berry; Fiscal Year: 2000
    ..This biochemical genetic disease results in cerebellar ataxia, immunodeficiency and cancer...
  76. 2001 CAG Triplet Repeat Disorders
    Patrick Brundin; Fiscal Year: 2001
    ..This latter group includes Huntington's disease, spino-cerebellar ataxia 1, 2, 3, 6 and 7, spinobulbar muscular atrophy and dentato-rubral pallido-luysian atrophy...
  77. MECHANISMS AND REHABILITATION OF CEREBELLAR ATAXIA
    Amy Bastian; Fiscal Year: 2002
    ..abstract_text> ..
  78. Automatic Cerebellar MRI Labeling in Health and Disease
    Jerry Prince; Fiscal Year: 2007
    ..cerebellum, as can more specific diseases of the cerebellum such as olivopontine cerebellar degeneration or cerebellar ataxia. These conditions may be associated with a host of disabling medical conditions, including gait and balance ..
  79. Automatic Cerebellar MRI Labeling in Health and Disease
    Jerry Prince; Fiscal Year: 2006
    ..cerebellum, as can more specific diseases of the cerebellum such as olivopontine cerebellar degeneration or cerebellar ataxia. These conditions may be associated with a host of disabling medical conditions, including gait and balance ..
  80. Vestibular and optokinetic testing for research and clinic
    CHRIS KANEKO; Fiscal Year: 2007
    ..The relevance to public health will be the expansion of model mouse systems for the study of human pathology and treatment in, for example, neurodegenerative diseases like cerebellar ataxia. [unreadable] [unreadable] [unreadable]
  81. The role of Nemo-like kinase in neurodegeneration
    Janghoo Lim; Fiscal Year: 2009
    ..genetic cause of the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1;a dominantly inherited cerebellar ataxia causing cerebellar Purkinje neuron degeneration) is known, and studies to identify the underlying ..
  82. IGF-I Therapy for Hereditary Cerebeullar Ataxia
    Wei Hua Lee; Fiscal Year: 2002
    ..from dying in cerebeltar mutant mice, thereby evaluating the therapeutic potential of IGF-l in treating cerebellar ataxia in humans...
  83. Spinocerebellar Ataxia Type 10
    Tetsuo Ashizawa; Fiscal Year: 2002
    ..abstract): Spinocerebellar ataxia type 10 (SCA 10) is an autosomal dominant disease characterized by cerebellar ataxia, seizure and anticipation...
  84. Spinocerebellar Ataxia Type 10
    Tetsuo Ashizawa; Fiscal Year: 2003
    ..abstract): Spinocerebellar ataxia type 10 (SCA 10) is an autosomal dominant disease characterized by cerebellar ataxia, seizure and anticipation...
  85. IGF-I Therapy for Hereditary Cerebeullar Ataxia
    Wei Hua Lee; Fiscal Year: 2002
    ..from dying in cerebeltar mutant mice, thereby evaluating the therapeutic potential of IGF-l in treating cerebellar ataxia in humans...