Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis.

ABSTRACT:

Background

TARDBP mutations have been reported in patients with amyotrophic lateral sclerosis (ALS) in different populations except Chinese. The present aim is to investigate the association between TARDBP mutations and Chinese patients with ALS.

Methods

71 SALS patients and 5 FALS families with non-SOD1 mutations were screened for TARDBP mutations via direct sequencing.

Results

A novel heterozygous variation, Ser292Asn (875G>A), was identified in the proband and 4 asymptomatic relatives including the children of the dead patient from a FALS family. Thus the dead patient, the proband's brother, was speculated to carry Ser292Asn though his sample was unavailable to the detection. This variation was not found in 200 unrelated control subjects. A homology search of the T

SUBMITTER: Xiong HL 

PROVIDER: S-EPMC2821387 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature