Ontology highlight
ABSTRACT:
SUBMITTER: Nicolas A
PROVIDER: S-EPMC5867896 | biostudies-other | 2018 Mar
REPOSITORIES: biostudies-other
Neuron 20180301 6
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causat ...[more]