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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

13 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)1301-1307
Numero di pagine7
RivistaJournal of Neural Transmission
Volume123
DOI
Stato di pubblicazionePubblicato - 2016

Keywords

  • Genetics
  • Parkinson’s disease
  • SNCA
  • α-synuclein
  • Family
  • Female
  • Mutation
  • Humans
  • Middle Aged
  • Parkinson Disease
  • Phenotype
  • alpha-Synuclein
  • Genetic Predisposition to Disease

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