Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred

Neurology. 2004 Jan 27;62(2):327-9. doi: 10.1212/01.wnl.0000103293.63340.c1.

Abstract

The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5 (SCA5) locus (multipoint lod score 5.76). The phenotype is characterized by a purely cerebellar syndrome with a downbeat nystagmus occurring prior to the development of other features. Imaging studies demonstrated cortical cerebellar atrophy. Progression is slow even in patients with a disease onset during the second decade. The age at onset varies from 15 to 50 years.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Chromosomes, Human, Pair 11 / genetics
  • Disease Progression
  • Female
  • Genes, Dominant
  • Germany / epidemiology
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nystagmus, Pathologic / epidemiology
  • Nystagmus, Pathologic / genetics
  • Pedigree
  • Spectrin
  • Spinocerebellar Ataxias / epidemiology
  • Spinocerebellar Ataxias / genetics*

Substances

  • Nerve Tissue Proteins
  • SPTBN2 protein, human
  • Spectrin