{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T19:00:42Z","timestamp":1784746842549,"version":"3.55.0"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1997,11]]},"DOI":"10.1212\/wnl.49.5.1243","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:30:30Z","timestamp":1336915830000},"page":"1243-1246","source":"Crossref","is-referenced-by-count":91,"title":["Clinical and molecular features of spinocerebellar ataxia type 6"],"prefix":"10.1212","volume":"49","author":[{"given":"G.","family":"Stevanin","sequence":"first","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Du\u0308rr","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"David","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Didierjean","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Cancel","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Rivaud","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Tourbah","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.-M.","family":"Warter","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Agid","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Brice","sequence":"additional","affiliation":[{"name":"From INSERM U289 and Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Du\u0308rr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Ho\u0302pital des 15\/20 (Dr. Tourbah), Paris, France; and the Service des maladies du syste\u0300me nerveus et du muscle, Ho\u0302pital Civil (Dr. Warter), Strasbourg, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_1_2_2","first-page":"7","volume":"386","year":"1997","unstructured":"Mandel J. Breaking the rule of three. Nature 1997;386:767-769.","journal-title":"Nature"},{"key":"e_1_3_1_3_2","first-page":"1","volume":"61","year":"1993","unstructured":"Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.","journal-title":"Adv Neurol"},{"key":"e_1_3_1_4_2","first-page":"2","volume":"4","year":"1993","unstructured":"Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993;4:221-226.","journal-title":"Nature Genet"},{"key":"e_1_3_1_5_2","first-page":"2","volume":"14","year":"1996","unstructured":"Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats. Nature Genet 1996;14:285-291.","journal-title":"Nature Genet"},{"key":"e_1_3_1_6_2","first-page":"2","volume":"14","year":"1996","unstructured":"Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 1996;14:269-276.","journal-title":"Nature Genet"},{"key":"e_1_3_1_7_2","first-page":"2","volume":"14","year":"1996","unstructured":"Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 1996;14:277-284.","journal-title":"Nature Genet"},{"key":"e_1_3_1_8_2","first-page":"2","volume":"8","year":"1994","unstructured":"Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-227.","journal-title":"Nature Genet"},{"key":"e_1_3_1_9_2","doi-asserted-by":"crossref","unstructured":"David G Abbas N Stevanin G et al. Cloning of the SCA7 gene for ADCA type II reveals a highly unstable CAG repeat expansion. Nature Genet 1997;17;65-70.","DOI":"10.1038\/ng0997-65"},{"key":"e_1_3_1_10_2","first-page":"3","volume":"59","year":"1996","unstructured":"Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996;59:392-399.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.1.1"},{"key":"e_1_3_1_12_2","first-page":"2","volume":"8","year":"1994","unstructured":"Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 1994;8:280-284.","journal-title":"Nature Genet"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/119.1.1"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-6"},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81316-1"},{"key":"e_1_3_1_16_2","first-page":"1","volume":"114","year":"1991","unstructured":"Pierrot-Deseilligny C, Rivaud S, Gaymard B, Agid Y. Cortical control of reflexive visually guided saccades. Brain 1991;114:1473-1485.","journal-title":"Brain"},{"key":"e_1_3_1_17_2","first-page":"3","volume":"152","year":"1986","unstructured":"Amasino RM. Acceleration of nucleic acid hybridization rate by polyethylene glycol. Anal Biochem 1986;152:304-307.","journal-title":"Anal Biochem"},{"key":"e_1_3_1_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390103"},{"key":"e_1_3_1_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.1"},{"key":"e_1_3_1_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.1"},{"key":"e_1_3_1_21_2","first-page":"7","volume":"6","year":"1997","unstructured":"Cancel G, D\u00fcrr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-715.","journal-title":"Hum Mol Genet"},{"key":"e_1_3_1_22_2","first-page":"1","volume":"59","year":"1996","unstructured":"Rubinsztein DC, Leggo J, Coles R, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996;59:16-22.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_23_2","first-page":"5","volume":"39","year":"1996","unstructured":"Goldfarb LG, Vasconcelos O, Platonov FA, et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 1996;39:500-506.","journal-title":"Ann Neurol"},{"key":"e_1_3_1_24_2","first-page":"1","volume":"11","year":"1996","unstructured":"Subramony SH, Fratkin JD, Manyam BV, Currier RD. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus. Mov Disord 1996;11:174-180.","journal-title":"Mov Disord"},{"key":"e_1_3_1_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.1.1"},{"key":"e_1_3_1_26_2","first-page":"2","volume":"39","year":"1996","unstructured":"Gilman S, Sima AA, Junck L, et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 1996;39:241-255.","journal-title":"Ann Neurol"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.49.5.1243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T15:50:12Z","timestamp":1711554612000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.49.5.1243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,11]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1997,11]]}},"alternative-id":["10.1212\/WNL.49.5.1243"],"URL":"https:\/\/doi.org\/10.1212\/wnl.49.5.1243","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,11]]}}}