Genomes and Genes
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)
Publications308 found, 100 shown here
- The therapeutic mode of action of 4-aminopyridine in cerebellar ataxiaKarina Alviña
Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York 10461, USA
J Neurosci 30:7258-68. 2010Episodic 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...
- Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficitsRobert 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...
- β- but not γ-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementiaRobert 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...
- Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsyJuliane Winkelmann
Institute of Human Genetics, Technische Universitat Munchen, Munich 81675, Germany
Hum Mol Genet 21:2205-10. 2012Autosomal 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...
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channelO 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...
- Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplificationKym M Boycott
Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
Am J Hum Genet 77:477-83. 2005An 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...
- Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxiaJoy 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...
- A new Kv1.2 channelopathy underlying cerebellar ataxiaGang 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...
- Increased AβPP processing in familial Danish dementia patientsShuji Matsuda
Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, NY, USA
J Alzheimers Dis 27:385-91. 2011....
- Autosomal recessive cerebellar ataxiasFrancesc 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...
- Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxiaEsther B E Becker
Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford University, Oxford, UK
J Neurol Neurosurg Psychiatry 83:437-40. 2012Relatively few studies have searched for potentially pathogenic antibodies in non-paraneoplastic patients with cerebellar ataxia.
- A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxiaR Zeng
Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA
J Vet Intern Med 25:267-72. 2011Bandera's neonatal ataxia (BNAt) is an autosomal recessive cerebellar ataxia that affects members of the Coton de Tulear dog breed.
- Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 geneCaroline Sevin
Pediatric Neurology and Endocrinology, Hopital St Vincent de Paul, Paris, France
Orphanet J Rare Dis 6:8. 2011To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).
- Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyondAlexandra 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...
- A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker miceEsther 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...
- Pathways to motor incoordination: the inherited ataxiasFranco Taroni
Laboratory of Cell Pathology, IRCCS Istituto Nazionale Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
Nat Rev Neurosci 5:641-55. 2004
- Cerebellar cell degeneration in the leaner mutant mouseK 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...
- 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...
- A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouseAdrian 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...
- Autosomal recessive cerebellar ataxias: the current state of affairsS 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...
- Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysisJ 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...
- Cerebellar ataxiasMario 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...
- Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyLuis 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 ..
- Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophyMike 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 ..
- Sporadic cerebellar ataxia associated with gluten sensitivityK Burk
Department of Neurology, University of Tubingen, Germany
Brain 124:1013-9. 2001A total of 104 patients with sporadic cerebellar ataxia were tested for antigliadin and antiendomysium antibodies. Twelve individuals (11...
- 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...
- Walking in circles: navigation deficits from Parkinson's disease but not from cerebellar ataxiaC 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 ..
- 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...
- Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiencyM 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.
- Immunohistochemical characterization of calcitonin gene-related peptide in the trigeminal system of the familial hemiplegic migraine 1 knock-in mouseRammya 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...
- Neonatal cerebellar ataxia in Coton de Tulear dogsJoan 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...
- Impact of the leaner P/Q-type Ca2+ channel mutation on excitatory synaptic transmission in cerebellar Purkinje cellsShaolin Liu
Department of Neurosciences, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 4975, USA
J Physiol 586:4501-15. 2008Loss-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...
- CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresJulie 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...
- Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraineB 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...
- Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registryMartin 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...
- Size of error affects cerebellar contributions to motor learningSarah 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...
- Rare forms of autosomal recessive neurodegenerative ataxiaMichel 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...
- The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based studyMark 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...
- Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyJan 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...
- Mesenchymal stem cells rescue Purkinje cells and improve motor functions in a mouse model of cerebellar ataxiaJonathan 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,..
- Cerebellar ataxia and central nervous system whipple diseaseBrandy 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.
- Hashimoto's encephalopathy presenting with progressive cerebellar ataxiaH Nakagawa
J Neurol Neurosurg Psychiatry 78:196-7. 2007
- Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulationAmila Suraweera
Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Hum Mol Genet 18:3384-96. 2009Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia...
- 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...
- Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activityC F Fletcher
Mouse Cancer Genetics Program, National Cancer Institute FCRDC, Frederick, Maryland 21702, USA
FASEB J 15:1288-90. 2001
- 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...
- ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiencyClotilde 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...
- Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patientsSetareh Shams'ili
Department of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands
Brain 126:1409-18. 2003Paraneoplastic cerebellar degeneration (PCD) is a heterogeneous group of disorders characterized by subacute cerebellar ataxia, specific tumour types and (often) associated antineuronal antibodies...
- CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitSeval Turkmen
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
PLoS Genet 5:e1000487. 2009....
- Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant backgroundD 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...
- Cerebellar cortical degeneration in three English bulldogs: clinical and neuropathological findingsG 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 ..
- The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxiaD H Geschwind
Department of Neurology, University of California, Los Angeles, School of Medicine, 90095 1769, USA
Am J Hum Genet 60:842-50. 1997....
- Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturationS 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)...
- Autosomal recessive cerebellar hypoplasia in the Hutterite populationHannah 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...
- Autosomal dominant cerebellar ataxia (SCA6): clinical, genetic and neuropathological study in a familyH 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.
- Endogenous estrogen formation is neuroprotective in model of cerebellar ataxiaAmanda 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)...
- Cerebellar cortical degeneration in adult American Staffordshire TerriersNatasha 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...
- 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 19p13.1K Ishikawa
Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Japan
Am J Hum Genet 61:336-46. 1997Autosomal 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)...
- X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411LA 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...
- Pharmacological treatments of cerebellar ataxiaMasafumi 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. 2004The 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...
- Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1AG 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 ..
- Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosisStefano 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...
- Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of HeldCarlota 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...
- Kinetic tremor and cerebellar ataxia as initial manifestations of Kikuchi-Fujimoto's diseaseJu 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...
- Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxiaBrent 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...
- Low-titer anti-GAD-antibody-positive cerebellar ataxiaKazunori Nanri
Department of Neurology, Tokyo Medical University Hachioji Medical Center, 1163 Tatemachi, Hachioji, Tokyo, 193 0998, Japan
Cerebellum 12:171-5. 2013The 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 ..
- Candidate screening of the TRPC3 gene in cerebellar ataxiaEsther 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...
- [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...
- Gluten sensitivity: associated sporadic cerebellar ataxia in TaiwanChin 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...
- Cognitive impairments in patients with congenital nonprogressive cerebellar ataxiaM Steinlin
Division of Neurology, University Children s Hospital, Zurich, Switzerland
Neurology 53:966-73. 1999To report neuropsychologic functions and developmental problems of patients with congenital nonprogressive cerebellar ataxia.
- A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machineryKaisa 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 ..
- Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutationH 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...
- Clinical, electrophysiological, and MRI findings in patients with cerebellar ataxia and a bilaterally pathological head-impulse testHanni Kirchner
Department of Neurology and IFB LMU Institute for Clinical Neurosciences, University Hospital Munich, Munich, Germany
Ann N Y Acad Sci 1233:127-38. 2011A significant number of patients with bilateral vestibulopathy suffer from cerebellar ataxia and central vestibular symptoms and vice versa...
- Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3P F Worth
Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
Am J Hum Genet 65:420-6. 1999Autosomal dominant cerebellar ataxia type III (ADCA III) is a relatively benign, late-onset, slowly progressive neurological disorder characterized by an uncomplicated cerebellar syndrome...
- Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxiaMario U Manto
Department of Medicine, Division of Metabolism, Endocrinology and Nutrition, University of Washington, Seattle, USA
Orphanet J Rare Dis 6:3. 2011To investigate whether Stiff-person syndrome (SPS) and cerebellar ataxia (CA) are associated with distinct GAD65-Ab epitope specificities and neuronal effects.
- Isolated cerebellar ataxia: an early neurological complication of enteric feverP 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...
- Autoantibodies in postinfectious acute cerebellar ataxiaAyumi Uchibori
Department of Neurology, School of Medicine, Kyorin University, Mitaka, Tokyo 181 8611, Japan
Neurology 65:1114-6. 2005The 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)...
- Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological studyNichola Zoe Lax
Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom
J Neuropathol Exp Neurol 71:148-61. 2012b>Cerebellar ataxia is a prominent clinical symptom in patients with mitochondrial DNA (mtDNA) disease. This is often progressive with onset in young adulthood...
- Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adultKerrie 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, ..
- Posterior fossa imaging in 158 children with ataxiaN Boddaert
Service de Radiologie Pediatrique, Hopital Necker Enfants Malades, AP HP, Paris V, Paris, France
J Neuroradiol 37:220-30. 2010To propose a MRI cerebellar algorithm that may be applied to guide genetic/malformative or biochemical investigations for patients with cerebellar ataxia.
- Coeliac disease in patients with cerebellar ataxia of unknown originL 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...
- Acute cerebellar ataxia due to Sjögren syndromeS Wong
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA
Neurology 62:2332-3. 2004
- Mapping cerebellar abiotrophy in Australian KelpiesJ 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...
- Late-onset progressive spinocerebellar degeneration in Brittany Spaniel dogsR 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...
- 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. 2009A 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...
- Falls in degenerative cerebellar ataxiasBart 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...
- Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 geneSergey 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....
- FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxiaA 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. 2005In 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...
- Asymmetric cerebellar ataxia and limbic encephalitis as a presenting feature of primary Sjögren's syndromeKiren Collison
J Neurol 254:1609-11. 2007
- Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer
Dept of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
J Neurol 254:1356-8. 2007b>Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I)...
- Excellent response to steroid treatment in anti-GAD cerebellar ataxiaGiuseppe Lauria
Department of Clinical Neurosciences, University of Brescia, Italy
Lancet Neurol 2:634-5. 2003
- A case report of plasmapheresis in paraneoplastic cerebellar ataxia associated with anti-Tr antibodyYoshihiko 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...
- [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. 2006b>Cerebellar ataxia with antiglutamic acid decarboxylase antibodies (GAD-ab) is an exceptional newly recognized autoimmune disorder...
- Selective loss of Purkinje cells in a patient with anti-glutamic acid decarboxylase antibody-associated cerebellar ataxiaKazuyuki Ishida
Department of Neurology, Tamagawa Hospital, Setagaya Ku, Tokyo, Japan
J Neurol Neurosurg Psychiatry 78:190-2. 2007Anti-glutamic acid decarboxylase antibody is associated with the development of progressive cerebellar ataxia and slowly progressive insulin-dependent diabetes mellitus...
- Population based study of late onset cerebellar ataxia in south east WalesM B Muzaimi
Department of Medicine, University Hospital of Wales, Cardiff, UK
J Neurol Neurosurg Psychiatry 75:1129-34. 2004To determine the prevalence and causation of late onset cerebellar ataxia (LOCA) in south east Wales, United Kingdom.
- Cerebellar ataxia associated with anti-glutamic acid decarboxylase autoantibodiesM 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 ..
- Locomotor training using body-weight support on a treadmill in conjunction with ongoing physical therapy in a child with severe cerebellar ataxiaKristin 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...
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosisDavid J Szmulewicz
Department of Neuroscience, Alfred Hospital, Melbourne, Australia
Ann N Y Acad Sci 1233:139-47. 2011The 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--..
- Genetic background of apparently idiopathic sporadic cerebellar ataxiaL 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 ..
- Presynaptic impairment of cerebellar inhibitory synapses by an autoantibody to glutamate decarboxylaseH 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 ..
- Cerebellar ataxia following prolonged use of metronidazole: case report and literature reviewKalpeshkumar 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...
- FUNCTION OF MIDBRAIN STRUCTURES IN EYE MOVEMENT CONTROLDAVID 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. ..
- Coordination of orofacial and respiratory movementsDetlef 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 ..
- Molecular Pathogenesis of Coenzyme Q10 DeficiencyMichio 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...
- Molecular Pathogenesis of Coenzyme Q10 DeficiencyMichio 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...
- 12th International Workshop on Ataxia-Telangiectasia and ATMRichard Gatti; Fiscal Year: 2006..A-T is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency, chromosomal instability, radiation sensitivity and increased incidence of ..
- Immune reactivity to synapsin in the neuropathy and ataxia of celiac diseaseArmin 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...
- Characterizing Beta Lactams/Neuroprotective Drugs/ALSJeffrey 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...
- CELLULAR RESPONSES TO UV-LIGHT IN ATAXIA TELANGIECTASIAKathleen 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...
- Ocular motor control and MRI in hereditary ataxiaSarah 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...
- Molecular mechanisms of lung disease in ataxia telangiectasiaJoAnn 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 ..
- MOLECULAR GENETICS OF THE SCA1 LOCUSHarry Orr; Fiscal Year: 2003Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthria and nystagmus...
- FUNCTION OF THE ATAXIA TELANGIECTASIA GENE PRODUCTLewis 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 ..
- Gene therapy for Ataxia TelangiectasiaMiguel Esteves; Fiscal Year: 2009..A-T is characterized by cerebellar ataxia, retinal telangiectasia, immunodeficiency, radiosensitivity, infertility, predisposition to malignancies and ..
- SK Channel Openers as Therapeutics for Cerebellar AtaxiaHeike Wulff; Fiscal Year: 2006b>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...
- SK Channel Openers as Therapeutics for Cerebellar AtaxiaHeike Wulff; Fiscal Year: 2007b>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...
- Structures and functions of the human Josephin domain-containing proteinsPATRICK 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)...
- Structures and functions of the human Josephin domain-containing proteinsPatrick 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)...
- MOLECULAR GENETICS OF THE SCA1 LOCUSHarry Orr; Fiscal Year: 2007Spinocerebellar ataxia type 1 (SCA1) is one of a series of autosomal dominant cerebellar ataxia. SCA1 patients develop gait ataxia, dysarthda and nystagmuso...
- Automatic Cerebellar MRI Labeling in Health and DiseaseJerry 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 ..
- Automatic Cerebellar MRI Labeling in Health and DiseaseJerry 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 ..
- Vestibular and optokinetic testing for research and clinicCHRIS 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.