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

Fondazione Santa Lucia

Research output: Contribution to journal › Article › peer-review

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)	1-7
Number of pages	7
Journal	Journal of Neural Transmission
DOIs	https://doi.org/10.1007/s00702-016-1578-6
Publication status	Accepted/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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10.1007/s00702-016-1578-6

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AU - Tambasco, Nicola

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AU - Romoli, Michele

AU - Prontera, Paolo

AU - Simoni, Simone

AU - Calabresi, Paolo

PY - 2016/6/1

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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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KW - Parkinson’s disease

KW - SNCA

KW - α-synuclein

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

Abstract

Keywords

ASJC Scopus subject areas

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