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Spinocerebellar ataxia: neurophysiological findings in two members of a family

✍ Scribed by R. Avendaño-Venegas

Book ID
119607484
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
68 KB
Volume
119
Category
Article
ISSN
1388-2457

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Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
✍ Keiko Hiramoto; Hideshi Kawakami; Kimiko Inoue; Takahiro Seki; Hirofumi Maruyama 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB

## Abstract Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have