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Mutations in KCND3 cause spinocerebellar ataxia type 22

✍ Scribed by Lee, Yi-Chung; Durr, Alexandra; Majczenko, Karen; Huang, Yen-Hua; Liu, Yu-Chao; Lien, Cheng-Chang; Tsai, Pei-Chien; Ichikawa, Yaeko; Goto, Jun; Monin, Marie-Lorraine; Li, Jun Z.; Chung, Ming-Yi; Mundwiller, Emeline; Shakkottai, Vikram; Liu, Tze-Tze; Tesson, Christelle; Lu, Yi-Chun; Brice, Alexis; Tsuji, Shoji; Burmeister, Margit; Stevanin, Giovanni; Soong, Bing-Wen

Book ID: 118751406
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 824 KB
Volume: 72
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.23701

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## 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”