Spinocerebellar ataxia with sensory neuropathy (SCA25)

Cerebellum. 2005;4(1):58-61. doi: 10.1080/14734220510007932.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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