Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.

ABSTRACT:

Background

Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease that affects neurons in the central nervous system and the spinal cord. As in many other neurodegenerative disorders, the genetic risk factors and pathogenesis of ALS involve dysregulation of cytoskeleton and neuronal transport. Notably, sensory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2 (HSAN2) and spastic paraplegia 30 (SPG30) share several causative genes with ALS, as well as having common clinical phenotypes. KIF1A encodes a kinesin 3 motor that transports presynaptic vesicle precursors (SVPs) and dense core vesicles and has been reported as a causative gene for HSAN2 and SPG30.

Methods

Here, we analyzed whole-exome sequencing da

SUBMITTER: Liao P 

PROVIDER: S-EPMC9597953 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature