## 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
Spinocerebellar ataxia type 14: Opening a new door in dominant ataxia research?
✍ Scribed by Pandolfo, M.; van de Warrenburg, B. P.C.
- Book ID
- 121852990
- Publisher
- Lippincott Williams and Wilkins
- Year
- 2005
- Tongue
- English
- Weight
- 103 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0028-3878
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## Abstract Autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurological disorders. Point mutations in the gene encoding protein kinase Cγ (__PRKCG__) are responsible for spinocerebellar ataxia 14 (SCA14). We screened for mutations in the __PRKCG__ gene, in a large series
## Abstract Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA‐phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chrom