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

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

doi:10.1007/s00702-016-1578-6

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

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

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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 language	English
Pages (from-to)	1301-1307
Number of pages	7
Journal	Journal of Neural Transmission
Volume	123
DOIs	https://doi.org/10.1007/s00702-016-1578-6
Publication status	Published - 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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10.1007/s00702-016-1578-6

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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.",

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T1 - A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

AU - Calabresi, Paolo

AU - Tambasco, Nicola

AU - Nigro, Pasquale

AU - Romoli, Michele

AU - Prontera, Paolo

AU - Simoni, Simone

PY - 2016

Y1 - 2016

N2 - 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.

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.

KW - Genetics

KW - Parkinson’s disease

KW - SNCA

KW - α-synuclein

KW - Family

KW - Female

KW - Mutation

KW - Humans

KW - Middle Aged

KW - Parkinson Disease

KW - Phenotype

KW - alpha-Synuclein

KW - Genetic Predisposition to Disease

KW - Genetics

KW - Parkinson’s disease

KW - SNCA

KW - α-synuclein

KW - Family

KW - Female

KW - Mutation

KW - Humans

KW - Middle Aged

KW - Parkinson Disease

KW - Phenotype

KW - alpha-Synuclein

KW - Genetic Predisposition to Disease

UR - http://hdl.handle.net/10807/173358

U2 - 10.1007/s00702-016-1578-6

DO - 10.1007/s00702-016-1578-6

M3 - Article

VL - 123

SP - 1301

EP - 1307

JO - Acta Neurovegetativa

JF - Acta Neurovegetativa

SN - 0375-9245

ER -

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

Abstract

Keywords

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