Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

Neurosci Lett. 2005 Jul;382(1-2):191-4. doi: 10.1016/j.neulet.2005.03.015. Epub 2005 Apr 1.

Abstract

The spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders linked to more than 20 genetic loci. Most often, these diseases are caused by expansion of triplet repeats encoding polyglutamine (polyQ) tracts. The phenotype is variable and can cause a disease that overlaps clinically with Parkinson's disease (PD). l-Dopa-responsive parkinsonism with minimal cerebellar deficits has been described in SCA2 and SCA3. In order to define if mutation at these loci is a common cause of clinically defined parkinsonism we typed the SCA-2 and SCA-3 repeats for expansion in a series of 280 patients diagnosed with PD or parkinsonism. We identified one pathogenic expansion in SCA-2 in a North American family with autosomal dominant parkinsonism.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Aged
  • Aged, 80 and over
  • Ataxin-3
  • Ataxins
  • DNA / genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology
  • Pedigree
  • Repetitive Sequences, Nucleic Acid / genetics
  • Repressor Proteins
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tremor / physiopathology

Substances

  • Ataxins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • DNA
  • ATXN3 protein, human
  • Ataxin-3