New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32
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- dc.contributor.author Serrano, Carmenca
- dc.contributor.author Corral Juan, Marcca
- dc.contributor.author Stevanin, Giovannica
- dc.contributor.author San Nicolás, Hectorca
- dc.contributor.author Roig, Carlesca
- dc.contributor.author Corral, Jordica
- dc.contributor.author Campos, Bertaca
- dc.contributor.author Jorge, Laura deca
- dc.contributor.author Morcillo Suárez, Carlos, 1969-ca
- dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-ca
- dc.contributor.author Forlani, Sylvieca
- dc.contributor.author Durr, Alexandraca
- dc.contributor.author Kulisevsky, Jaime J.ca
- dc.contributor.author Brice, Alexisca
- dc.contributor.author Sánchez, Ivelisseca
- dc.contributor.author Volpini, Victorca
- dc.contributor.author Matilla Dueñas, Antonica
- dc.date.accessioned 2015-12-02T16:19:18Z
- dc.date.available 2015-12-02T16:19:18Z
- dc.date.issued 2013
- dc.description.abstract IMPORTANCE: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE: To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN Family study of ambulatory patients. Electro-oculographic and genetics studies were performed in 2 referral university centers. SETTING: Primary care institutional center in Spain. PARTICIPANTS: Thirty-six participants from a large Spanish kindred were clinically examined, and 33 family members were genetically examined. Detailed clinical data were obtained from 9 affected relatives. Two ataxic siblings and 2 asymptomatic family members were examined using an enhanced clinical protocol for a follow-up period of 7 years. MAIN OUTCOMES AND MEASURES: High-density genome-wide single-nucleotide polymorphism arrays, along with microsatellite analysis, and genetic linkage studies were performed. Whole-exome sequencing was used for 2 affected relatives. For most patients, the initial symptoms included falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. For all 9 affected relatives, we observed altered vertical eye movements, as initial ocular signs for 3 of them and for the 2 asymptomatic family members, all having inherited the risk haplotype. Neuroimaging showed isolated cerebellar atrophy. RESULTS: Initial genome-wide linkage analysis revealed suggestive linkage to chromosome 1p32. Multipoint analysis and haplotype reconstruction further traced this SCA locus to a 0.66-cM interval flanked by D1S200 and D1S2742 (z(max) = 6.539; P < .0001). The causative mutation was unidentified by exome sequencing. CONCLUSIONS AND RELEVANCE: We report a new subtype of SCA presenting in patients as slow progressing ataxia with altered vertical eye movements linked to a 11-megabase interval on 1p32. The Human Genome Nomenclature Committee has assigned this subtype of ataxia the designation SCA37.ca
- dc.format.mimetype application/pdfca
- dc.identifier.citation Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J et al. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA neurology. 2013;70(6):764-71. DOI: 10.1001/jamaneurol.2013.2311ca
- dc.identifier.doi http://dx.doi.org/10.1001/jamaneurol.2013.2311
- dc.identifier.issn 2168-6149
- dc.identifier.uri http://hdl.handle.net/10230/25315
- dc.language.iso engca
- dc.publisher American Institute of Physics (AIP)ca
- dc.relation.ispartof JAMA neurology. 2013;70(6):764-71
- dc.rights © American Medical Association. All Rights Reserved.ca
- dc.rights.accessRights info:eu-repo/semantics/openAccessca
- dc.subject.other Gens Mapatgeca
- dc.title New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32ca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersionca