Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia.

ABSTRACT:

Background

Studies have reported that a noncoding hexanucleotide repeat in C9ORF72, is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasian population, nevertheless it is rare in Chinese population. Therefore, we aimed to investigate the mutation spectrum of Chinese ALS patients with FTD (ALS-FTD).

Methods

ALS patients with and without cognitive impairments were enrolled. Clinical features were collected including age, sex, disease duration, ALSFRS-r, family history and cognitive evaluation. Thirty-six ALS genes were screened by whole exome sequencing (WES) and repeat-primed polymerase chain reaction (PCR) were used for detection of and abnormal repeat expansions of C9ORF72.

Results

A total of 1208 pati

SUBMITTER: Yang X 

PROVIDER: S-EPMC9641840 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature