Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Abstract:

:Mutations in the profilin 1 (PFN1) gene, encoding a member of the profilin family of small actin-binding proteins, have been recently reported in patients with familial amyotrophic lateral sclerosis (ALS). In this study we aimed to determine the prevalence of PFN1 mutations by sequencing the coding region of this gene in a cohort of 94 familial ALS patients from France and Quebec. No mutations were identified in our cohort suggesting that PFN1 gene mutations are a very rare cause of familial ALS among patients with predominantly European ancestry.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Daoud H,Dobrzeniecka S,Camu W,Meininger V,Dupré N,Dion PA,Rouleau GA

doi

10.1016/j.neurobiolaging.2012.09.001

subject

Has Abstract

pub_date

2013-04-01 00:00:00

pages

1311.e1-2

issue

4

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(12)00457-5

journal_volume

34

pub_type

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