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

Nicola Tambasco, Pasquale Nigro, Michele Romoli, Paolo Prontera, Simone Simoni, Paolo Calabresi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
JournalJournal of Neural Transmission
DOIs
Publication statusAccepted/In press - Jun 1 2016

Keywords

  • Genetics
  • Parkinson’s disease
  • SNCA
  • α-synuclein

ASJC Scopus subject areas

  • Biological Psychiatry
  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health

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