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Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic

✍ Scribed by Y. Hellenbroich; V. Bernard; C. Zühlke

Publisher
Springer
Year
2008
Tongue
English
Weight
166 KB
Volume
255
Category
Article
ISSN
0340-5354

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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