Recent advances in hereditary spinocerebellar ataxias

J Neuropathol Exp Neurol. 2005 Mar;64(3):171-80. doi: 10.1093/jnen/64.3.171.


In recent years, molecular genetic research has unraveled a major part of the genetic background of autosomal dominant and recessive spinocerebellar ataxias. These advances have also allowed insight in (some of) the pathophysiologic pathways assumed to be involved in these diseases. For the clinician, the expanding number of genes and genetic loci in these diseases and the enormous clinical heterogeneity of specific ataxia subtypes complicate management of ataxia patients. In this review, the clinical and neuropathologic features of the recently identified spinocerebellar ataxias are described, and the various molecular mechanisms that have been demonstrated to be involved in these disorders are discussed.

Publication types

  • Review

MeSH terms

  • Axonal Transport / physiology
  • Calcium Signaling / physiology
  • DNA Repair / physiology
  • Genes, Dominant
  • Genes, Recessive
  • Growth Substances / metabolism
  • Humans
  • Mitochondria / physiology
  • Molecular Chaperones / metabolism
  • Mutation / genetics*
  • Proteasome Endopeptidase Complex / metabolism
  • Protein Folding
  • Spinocerebellar Ataxias / classification
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology
  • Transcription, Genetic
  • Trinucleotide Repeats / genetics*
  • Ubiquitin / metabolism


  • Growth Substances
  • Molecular Chaperones
  • Ubiquitin
  • Proteasome Endopeptidase Complex