Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy

Parkinsonism Relat Disord. 2007 Aug;13(6):340-2. doi: 10.1016/j.parkreldis.2006.12.005. Epub 2007 Feb 8.

Abstract

Multiple system atrophy (MSA) is by nature a 'sporadic' disease with no evidence of familial aggregation observed. However, the alpha-synuclein locus (SNCA) multiplication families have clinically displayed parkinsonism and autonomic dysfunction. The present study did not find any SNCA multiplications in a series of 58 pathologically confirmed MSA cases excluding this event as a common cause of MSA. The question of a genetic component in MSA remains to be answered.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Genetic Testing / methods
  • Humans
  • Male
  • Multiple System Atrophy / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • alpha-Synuclein / genetics*

Substances

  • SNCA protein, human
  • alpha-Synuclein