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Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Abstract：

:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are adult-onset neurodegenerative diseases with overlapping clinical characteristics. They share common genetic causes and pathologic hallmarks such as TDP-43 neuronal accumulations. Recently, exome analysis identified mutations in matrin 3 (MATR3) gene in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease. MATR3 is a nuclear matrix protein with DNA and RNA binding domains that interacts with TDP-43. To confirm the contribution of MATR3 to ALS, we studied a French cohort of 153 familial ALS or ALS/FTLD patients, without finding any variant. We conclude that mutations in MATR3 are rare in French familial ALS and ALS with FTLD patients.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Millecamps S,De Septenville A,Teyssou E,Daniau M,Camuzat A,Albert M,LeGuern E,Galimberti D,French research network on FTD and FTD-ALS.,Brice A,Marie Y,Le Ber I

doi

10.1016/j.neurobiolaging.2014.07.016

subject

Has Abstract

pub_date

2014-12-01 00:00:00

pages

2882.e13-2882.e15

issue

12

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(14)00485-0

journal_volume

35

pub_type

杂志文章

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