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Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria.

Abstract：

OBJECTIVE:Neurodegenerative diseases are often characterized by the presence of intracellular or extracellular protein aggregates in the central nervous system. Mutations of TARDBP gene have been shown to cause Amyotrophic Lateral Sclerosis and have been reported to present with clinical heterogeneity including parkinsonism. TDP-43 pathology has been observed across a spectrum of neurodegenerative disorders, including Alzheimer's and Parkinson's disease. METHODS:In this study we screened 100 sporadic and 165 familial PD patients and control series (450) for the TARDBP gene. All cases and controls included in this study were born and living in Calabria. RESULTS:The p.N267S heterozygous mutation was detected in one sporadic PD patient. The p.N267S mutation was not found in a control population of 450 healthy individuals and in our 165 familial PD. CONCLUSIONS:Sequencing of the TARDBP gene in our patient cohort identified one sporadic PD carrying the p.N267S mutation. This is the first analysis of TARDBP mutation in sporadic PD patient from South Italy.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Gagliardi M,Arabia G,Nisticò R,Iannello G,Procopio R,Manfredini L,Annesi G,Quattrone A

doi

10.1016/j.jns.2018.04.043

subject

Has Abstract

pub_date

2018-07-15 00:00:00

pages

209-211

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(18)30214-4

journal_volume

390

pub_type

杂志文章

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