title: A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.
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.
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy. n.tambasco@libero.it.
authors.forename: Nicola
authors.initials: N
authors.lastname: Tambasco
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Nigro
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Romoli
authors.affiliation: Servizio di Genetica Medica, Azienda Ospedaliera di Perugia, Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.
authors.forename: Simone
authors.initials: S
authors.lastname: Simoni
authors.affiliation: Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.|I.R.C.C.S. Fondazione S.Lucia, Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Calabresi
mesh_terms: D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D010641:Phenotype; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: C497604:SNCA protein, human; D051844:alpha-Synuclein
keywords: Genetics; Parkinson’s disease; SNCA; α-synuclein