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Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

✍ Scribed by Eliana Marisa Ramos; Sandra Martins; Isabel Alonso; Vanessa E. Emmel; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Paula Coutinho; Jorge Sequeiros; Isabel Silveira

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 188 KB
Volume: 153B
Category: Article
ISSN: 1552-4841
DOI: 10.1002/ajmg.b.31013

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Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually