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

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

doi:10.1007/s00702-016-1578-6

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

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

Risultato della ricerca: Contributo in rivista › Articolo 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 originale	English
pagine (da-a)	1301-1307
Numero di pagine	7
Rivista	Journal of Neural Transmission
Volume	123
DOI	https://doi.org/10.1007/s00702-016-1578-6
Stato di pubblicazione	Pubblicato - 2016

Keywords

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

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10.1007/s00702-016-1578-6

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AU - Tambasco, Nicola

AU - Nigro, Pasquale

AU - Romoli, Michele

AU - Prontera, Paolo

AU - Simoni, Simone

AU - Calabresi, Paolo

PY - 2016

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AB - 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.

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

Abstract

Keywords

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