KIF5A mutations a cause of ALS

In a paper published in Neuron, an international consortium of researchers identified loss-of-function mutations in the kinesin family member 5A (KIF5A) gene as a cause of amyotrophic lateral sclerosis through large-scale genome studies combined with exome sequencing.

Missense mutations in the N-terminal domains of KIF5A are known to cause two neurodegenerative diseases -- hereditary spastic paraparesis (HSP) and Charcot-Marie-Tooth disease Type 2 (CMT2). A recent study in Brain found that KIF5A mutations within a different region -- the C-terminal hot spot -- may be a cause of ALS symptoms...