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Spectrin mutations cause spinocerebellar ataxia type 5

✍ Scribed by Ikeda, Yoshio; Dick, Katherine A; Weatherspoon, Marcy R; Gincel, Dan; Armbrust, Karen R; Dalton, Joline C; Stevanin, Giovanni; Dürr, Alexandra; Zühlke, Christine; Bürk, Katrin

Book ID
109919310
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
389 KB
Volume
38
Category
Article
ISSN
1061-4036

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✍ Peter Bauer; Ludger Schöls; Olaf Riess 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract Recently, βIII spectrins have been recognized as ataxia disease genes, with the identification by Ikeda and co‐workers of pathogenic mutations in the __SPTBN2__ gene in three large (and mapped) SCA5 families of American and European origin.^(1)^ With their discovery, the large “Lincoln”