Spinocerebellar ataxia with mental retardation (SCA13)

Cerebellum. 2005;4(1):43-6. doi: 10.1080/14734220510007923.

Abstract

Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onset and mental deficiency. The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • DNA Mutational Analysis / methods
  • Genetic Linkage
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging / methods
  • Pedigree
  • Phenotype
  • Spinocerebellar Ataxias / classification
  • Spinocerebellar Ataxias / complications
  • Spinocerebellar Ataxias / genetics*