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Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

✍ Scribed by Hubener, J.; Weber, J. J.; Richter, C.; Honold, L.; Weiss, A.; Murad, F.; Breuer, P.; Wullner, U.; Bellstedt, P.; Paquet-Durand, F.; Takano, J.; Saido, T. C.; Riess, O.; Nguyen, H. P.

Book ID
119992005
Publisher
Oxford University Press
Year
2012
Tongue
English
Weight
610 KB
Volume
22
Category
Article
ISSN
0964-6906

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## Abstract Machado‐Joseph disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a translated CAG repeat expansion. Here, we present the first prenatal diagnosis of MJD in Taiwan in a woman whose husba