A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

J Neural Transm (Vienna). 2016 Nov;123(11):1301-1307. doi: 10.1007/s00702-016-1578-6. Epub 2016 Jun 1.

Abstract

Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.

Keywords: Genetics; Parkinson’s disease; SNCA; α-synuclein.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Family
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mutation*
  • Parkinson Disease / genetics*
  • Phenotype
  • alpha-Synuclein / genetics*

Substances

  • SNCA protein, human
  • alpha-Synuclein