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| cerebellar ataxiaSummarySummary: 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
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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...- 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... - 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... 
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...- 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... - 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... - 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... 
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...- 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... - Rare forms of autosomal recessive neurodegenerative ataxiaMichel Koenig
, , 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... - 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)... - 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... - 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... - 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 - 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)... - 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... - 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... - 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 .. - 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... - 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... - 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... - 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, .. - 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... - 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... - 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. - 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... - 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... - 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 - 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..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... - 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)... - 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. 2010OBJECTIFS: To propose a MRI cerebellar algorithm that may be applied to guide genetic/malformative or biochemical investigations for patients with cerebellar ataxia. - 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 .. - 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). - 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.... - Asymmetric cerebellar ataxia and limbic encephalitis as a presenting feature of primary Sjögren's syndromeKiren Collison
J Neurol 254:1609-11. 2007 - Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titerS Kono
First Department of Medicine, Hamamatsu University School of Medicine
Intern Med 40:968-71. 2001..We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers... - 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)... - 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. 2004OBJECTIVE: To determine the prevalence and causation of late onset cerebellar ataxia (LOCA) in south east Wales, United Kingdom... - 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... - [A new case of cerebellar ataxia with anti-GAD antibodies treated with corticosteroids and initially seronegative]B Birand
Service de Neurologie, , CHU de Fort-de-France, 97261 Fort-de-France, France
Rev Med Interne 27:616-9. 2006INTRODUCTION: Cerebellar ataxia with antiglutamic acid decarboxylase antibodies (GAD-ab) is an exceptional newly recognized autoimmune disorder... - 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... - Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?A K Jbour
J Med Genet 40:e2. 2003 - 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 .. - 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... - 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 - 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... - 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 .. - A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qterI Yamashita
Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan
Ann Neurol 48:156-63. 2000Dominantly inherited, late-onset pure cerebellar ataxia is a group of genetically heterogeneous neurodegenerative disorders... - Cerebellar ataxia with glutamic acid decarboxylase autoantibodiesM Abele
Department of Neurology, University of Tubingen, Germany
Neurology 52:857-9. 1999Degenerative cerebellar ataxia with autoantibodies against glutamic acid decarboxylase (GAD) is a rare disorder and may represent a subset of ataxias previously classified as idiopathic... - Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from PortugalJ Vale
Neurology Department, Hospital de Egas Moniz CHLO, Lisbon, Portugal
Eur J Neurol 17:124-8. 2010The relative frequency of the different autosomal dominant cerebellar ataxia (ADCA) varies widely amongst different geographic locations. Here we describe a series of 45 ADCA families from Portugal. - 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... - Cerebellar ataxia in non-paraneoplastic Lambert-Eaton myasthenic syndromePaulo J Lorenzoni
Department of Internal Medicine, Universidade Federal do Parana, Curitiba, Brazil
J Neurol Sci 270:194-6. 2008..syndrome (LEMS) is an immune-mediated disorder of the neuromuscular junction that rarely is associated with cerebellar ataxia (CA)... - Use of trunk stabilization and locomotor training in an adult with cerebellar ataxia: a single system designJane E Freund
Department of Physical Therapy Education, Elon University, Elon, North Carolina 27244, USA
Physiother Theory Pract 26:447-58. 2010..Further research with additional subjects is indicated... - Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxiaH J Schelhaas
Department of Neurology, Medical Spectrum Twente, Enschede, The Netherlands
J Neurol 248:113-20. 2001..The genetic loci implicated in ADCA were excluded by mutation analyses (SCA 1, 2, 3, 6, 7, 8, 12) and genetic linkage (SCA 4, 5, 6, 10, 11). We conclude that this family represents a clinically and genetically distinct form of SCA... - Cerebellar ataxia in patients with Leber's hereditary optic neuropathyI Funakawa
Department of Internal Medicine, Kawasaki Medical School, Okayama, Japan
J Neurol 242:75-7. 1995..Both also had cerebellar ataxia and dysarthria and in both cases cerebellar atrophies were detected by computed tomography or magnetic .. - 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 .. - [Incomplete Bardet-Biedl syndrome associated with cerebellar ataxia]P Kowal
Katedry i Kliniki Neurologii AM w Poznaniu
Neurol Neurochir Pol 23:145-8. 1989..The authors suggest that the pathogenetic cause of the syndrome was a teratogenic effect of quinine during organogenesis while cerebellar atrophy was due probably to metabolic disturbances... - Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer
Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
Am J Hum Genet 87:813-9. 2010..technology, we identified a mutation in a gene and have shown its association with autosomal-recessive cerebellar ataxia. In a Dutch consanguineous family with three affected siblings a homozygous 12... - The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1A Benomar
INSERM U 289, Hôpital de la Salpêtière, Paris, France
Nat Genet 10:84-8. 1995Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (ADCA type II) is a rare neurodegenerative disorder with marked anticipation... - 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--.. - Primary episodic ataxias: diagnosis, pathogenesis and treatmentJ C Jen
Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
Brain 130:2484-93. 2007.... - Sensory prediction errors drive cerebellum-dependent adaptation of reachingYa weng Tseng
Dept of Neurology, The Johns Hopkins School of Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA
J Neurophysiol 98:54-62. 2007..Healthy controls and people with hereditary cerebellar ataxia reached during a visuomotor perturbation in two conditions: "shooting" movements without on-line .. - Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in JapanMingshun Li
Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan
J Hum Genet 48:111-8. 2003Autosomal dominant cerebellar ataxia (ADCA) is a group of heterogeneous neurodegenerative disorders... - Effect of intravenous immunoglobulin on cerebellar ataxia and neuropathic pain associated with celiac diseaseN Souayah
Department of Neurology, New Jersey Medical School, Newark, NJ, USA
Eur J Neurol 15:1300-3. 2008..Cerebellar syndrome and small fiber neuropathy may complicate celiac disease (CD) and may be resistant to a strict gluten-free diet... - Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Neurology 60:1206-8. 2003..measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients with childhood-onset ataxia and cerebellar atrophy had markedly decreased levels of CoQ10... - Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patientsJoost Grefkens
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... - Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3K Burk
Department of Neurology, University of Tubingen, Hoppe Seyler Strasse 3, D 72076 Tubingen, Germany
J Neurol 246:789-97. 1999Forty-six patients suffering from autosomal dominant cerebellar ataxia type I (ADCA I) underwent to a genotype-phenotype correlation analysis by molecular genetic assignment to the spinocerebellar ataxia type 1, 2, or 3 (SCA1, SCA2, SCA3).. - 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)... - Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31C Lagier-Tourenne
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM Universite Louis Pasteur, Illkirch, France
Eur J Hum Genet 11:770-8. 2003..an autosomal recessive condition characterised by somatic and mental retardation, congenital cataracts and cerebellar ataxia. Progressive myopathy was later reported to be also a cardinal sign of MSS, with myopathic changes on muscle .. - Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical signAmerico A Migliaccio
Neurology Department, Royal Prince Alfred Hospital, Sydney, Australia
Brain 127:280-93. 2004We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-.. - Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutationT Murakami
First Department of Internal Medicine, Kumamoto University School of Medicine, Japan
J Neurol Sci 142:111-3. 1996We investigated a family with optic atrophy which occurred in childhood or early adulthood plus late-onset cerebellar ataxia. The magnetic resonance imaging in the proband revealed cerebellar atrophy... - Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European populationStefan Wieczorek
Human Genetics, MA5 39, Ruhr University, Bochum, 44780, Germany
J Hum Genet 51:363-7. 2006Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with overlapping clinical presentation... - Intravenous immunoglobulin therapy for autoantibody-positive cerebellar ataxiaKazunori Nanri
Department of Neurology, Tokyo Medical University Hachioji Medical Center, Tokyo
Intern Med 48:783-90. 2009..that autoimmune cerebellar ataxias, such as anti-glutamic acid decarboxylase (GAD)-antibody-positive cerebellar ataxia and gluten ataxia, are treatable... - Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibodyTakashi Shiihara
Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
Brain Dev 29:254-6. 2007Acute cerebellar ataxia is usually a self-limited benign disease, which may develop in children after certain viral infections or vaccinations. There are several reports of acute cerebellar ataxia associated with autoantibodies... - 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 - CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxiaH Fujigasaki
INSERM U289, , Paris, France
Brain 124:1939-47. 2001At least 13 loci responsible for autosomal dominant cerebellar ataxia (ADCA) have been identified. Spinocerebellar ataxia 1, 2, 3, 6 and 7 are caused by translated CAG repeat expansions... - Mutant mice as a model for cerebellar ataxiaU Grüsser-Cornehls
Freie Universitat Berlin, Fachbereich Humanmedizin, Universitatsklinikum Benjamin Franklin, Department of Physiology, 14195, Berlin, Germany
Prog Neurobiol 63:489-540. 2001..cerebellar inhibition will cause uncoordinated, decomposed and ataxic movements, commonly referred to as cerebellar ataxia. Electrophysiological investigations using different cerebellar mouse mutants have shown that alterations in .. - Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxiaFrancois Gros-Louis
Centre for the Study of Brain Diseases, Universite de Montreal, Montreal, Quebec, H2L 4M1, Canada
Nat Genet 39:80-5. 2007..discovered form of recessive ataxia in a French-Canadian cohort and show that SYNE1 mutations are causative in all of our kindreds, making SYNE1 the first identified gene responsible for a recessively inherited pure cerebellar ataxia. - A girl with abnormal head and eye movements: Joubert syndrome (2005:3b)S K Verma
Department of Radiology and Imaging, K.G. Hospital and P.G Medical Institute, Coimbatore, India
Eur Radiol 15:1274-6. 2005..Subsequent CT and MRI were performed to reach to the final diagnosis. The clinical history and the imaging findings were classical for Joubert syndrome... - Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxiaJ C Jen
Department of Neurology, School of Medicine, University of California, Los Angeles 90095 1769, USA
Neurology 67:1704-6. 2006..1-35.3, 7q36.2-36.3, and 9q31.2-32 and ruled out linkage to the NPCA locus on 3p, proving genetic heterogeneity for autosomal dominant NPCA... - Ipsidirectional impairment of prism adaptation after unilateral lesion of anterior cerebellumL Pisella
Espace et Action, INSERM, Universite Claude Bernard Lyon I, Institut Federatif des Neurosciences de Lyon, Mouvement et Handicap, Lyon, France
Neurology 65:150-2. 2005..He adapted to rightward but not leftward prisms, independent of which hand was used during exposure. This suggests a role of anterior cerebellar cortex in the computation or compensation of ipsidirectional visual error... - Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapyC Clabby
Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland
Neurology 65:331-2. 2005 - Unique cerebellar-cerebral form of autosomal recessive ataxiaEtsuro Matsubara
Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University, Okayama, Japan
Tohoku J Exp Med 207:81-5. 2005..ataxia, the patients developed an extremely accelerated progression of the condition which consisted of cerebellar ataxia, seizure, progressive dementia and spastic tetraparesis. Age of onset was variable at 7 to 18 years... - Non-progressive congenital ataxia with cerebellar hypoplasia in three familiesZ Yapici
Department of Neurology, Division of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Acta Paediatr 94:248-53. 2005..Non-progressive ataxias with cerebellar hypoplasia are a rarely seen heterogeneous group of hereditary cerebellar ataxias... - [Progressive ataxia and cognitive deficits caused by premutation in the fragile-X-mental retardation gene]G Roks
St. Elisabeth Ziekenhuis, afd. Neurologie, Postbus 90.151, 5000 LC, Tilburg
Ned Tijdschr Geneeskd 149:2418-22. 2005..Recognition of this clinical picture is important for the patient but also for the relatives, since female carriers of the premutation have an increased risk of offspring with the fragile-X syndrome... - FAME 3: a novel form of progressive myoclonus and epilepsyJ A Carr
Division of Neurology, Faculty of Health Sciences, University of Stellenbosch, South Africa
Neurology 68:1382-9. 2007..Familial adult myoclonic epilepsy (FAME) is associated with myoclonus, tremor, and rare seizures, and is a nonprogressive disorder linked to the FAME 1 locus. A similar disorder has been linked to the FAME 2 locus... - Acute cerebellitis complicated by hydrocephalus and impending cerebral herniationRonald van Toorn
Paediatric Neurology Unit, Tygerberg Children s Hospital, Faculty of Health Sciences, University of Stellenbosch, Cape Town, South Africa
J Child Neurol 19:911-3. 2004..Magnetic resonance imaging (MRI) is useful in differentiating this unusual course of acute cerebellar ataxia from that of a posterior fossa tumor... - Ataxia, autism, and the cerebellum: a clinical study of 32 individuals with congenital ataxiaIngegerd Ahsgren
Department of Child and Adolescent Neurology and Habilitation, Norrliden, Sundsvall Hospital, SE 851 86 Sundsvall, Sweden
Dev Med Child Neurol 47:193-8. 2005..Congenital ataxia might not be a clear-cut syndrome of cerebellar disease, but one of many signs of prenatal events or syndromes, leading to a complex neurodevelopmental disorder including autism and learning disability... - Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervalsM Gerwig
Department of Neurology, University of Duisburg Essen, Hufelandstrasse 55, 45147 Essen, Germany
Exp Brain Res 187:85-96. 2008..with degenerative cerebellar disorders (four with sporadic adult onset ataxia, three with autosomal dominant cerebellar ataxia type III and one with spinocerebellar ataxia type 6) and eight age- and sex-matched healthy control subjects .. - A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterizationMoreno Ferrarini
Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy
J Neurol Sci 260:219-24. 2007..AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy... - Cerebrotendinous xanthomatosis: a treatable ataxiaC S Clemen
Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931 Koeln, Germany
Neurology 64:1476. 2005 - Cerebellar abnormalities on proton MR spectroscopy in gluten ataxiaI D Wilkinson
Academic Unit of Radiology, University of Sheffield, Sheffield, England
J Neurol Neurosurg Psychiatry 76:1011-3. 2005..These data support the hypothesis that cerebellar neuronal physiology differs between patients with gluten ataxia and healthy controls... - 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... - Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystoniaJ Hagenah
Neurology 68:2157; author reply 2157-8. 2007 - Unusual neuroimaging in superficial siderosisJ A Wilden
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neurology 65:489. 2005 - Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degenerationStefanie Richter
Department of Neurology, University of Duisburg Essen, Essen, Germany
Eur Neurol 54:23-7. 2005The aim of the present study was to compare the severity of cerebellar ataxia as measured by the International Cooperative Ataxia Rating Scale (ICARS) by Trouillas et al... - Atypical presentation of ataxia-oculomotor apraxia type 1Amre Shahwan
Neurology Department, Royal Children's Hospital, Melbourne, Australia
Dev Med Child Neurol 48:529-32. 2006..types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive .. - Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutationY Karmon
J Neurol Neurosurg Psychiatry 79:738-9. 2008
Research Grants
- 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: 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...
- 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...
- 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.