ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

ABSTRACT:

Background

The Annexin A11 (ANXA11) gene has been newly identified as a causative gene of amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). The current study aimed to investigate the ANXA11 mutations in a Chinese ALS-FTD or FTD cohort.

Methods

We included ten probands/patients with suspected ALS-FTD or FTD. Mutational analysis of ANXA11 was performed through Next Generation Sequencing (NGS) and Sanger sequencing. We collected and reviewed clinical presentation, neuropsychology test results, brain-imaging findings, and electrophysiological examination findings.

Results

In total, six probands presented with ALS-FTD, and four with behavior variant FTD (bv-FTD). We identified a non-synonymous heterozygous mutation (c.1

SUBMITTER: Wang Y 

PROVIDER: S-EPMC9549789 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature