Spinocerebellar ataxia with sensory neuropathy (SCA25).

Abstract

Spinocerebellar ataxia 25 (SCA25) is a rare form of autosomal dominant cerebellar ataxia associated with a severe sensory neuropathy. Clinical variability ranges from incomplete penetrance at age 61 to a Friedreich ataxia-like syndrome. The responsible locus was mapped to chromosome 2p in a large region of 14 Mbases in a single French kindred.

• Authors: Giovanni Stevanin, Emmanuel Broussolle, Nathalie Streichenberger, Nicolas Kopp, Alexis Brice, Alexandra Durr
• Journal: Cerebellum (London, England) (Cerebellum) Vol. 4 Issue 1 Pg. 58-61 ( 2005) ISSN: 1473-4222 [Print] United States
• PMID: 15895562 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Cerebellum (pathology)
• Chromosome Mapping
• Chromosomes, Human, Pair 2
• Humans
• Magnetic Resonance Imaging (methods)
• Male
• Middle Aged
• Pedigree
• Peripheral Nervous System Diseases (genetics, pathology, physiopathology)
• Spinocerebellar Ataxias (genetics, pathology, physiopathology)