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01-11-2016 | Neurology and Preclinical Neurological Studies - Short communication

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

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

Published in: Journal of Neural Transmission | Issue 11/2016

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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Title: A53T in a parkinsonian family: a clinical update of the SNCA phenotypes
Authors: Nicola Tambasco
Pasquale Nigro
Michele Romoli
Paolo Prontera
Simone Simoni
Paolo Calabresi
Publication date: 01-11-2016
Publisher: Springer Vienna
Published in: Journal of Neural Transmission / Issue 11/2016
Print ISSN: 0300-9564
Electronic ISSN: 1435-1463
DOI: https://doi.org/10.1007/s00702-016-1578-6

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

Abstract

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Abstract

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