Key People For Mutations Kif5a

Top KOLs in the world
Alexis Brice
parkinson disease cerebellar ataxia age onset
Evan Reid
spastic paraplegia membrane traffic endoplasmic reticulum
Margaret A O Pericak‐Vance
alzheimer disease multiple sclerosis human pair
David Chaim Rubinsztein
cell death neurodegenerative diseases huntington disease
Allison E Ashley‐Koch
sickle cell disease autistic disorder genetic variation
Douglas A Marchuk
cerebral cavernous malformations hereditary hemorrhagic infarct volume
Select a search phrase   mutations kif5a , mutations kif5a gene

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene


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 causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

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