Most recent disease gene discoveries in the field of ALS constitute the genes KIF5A, ANXA11, GLT8D1 and TIA1, as well as an array of novel risk factors and modifiers.
The frequency of KIF5A mutations accounts for 0.16% (1/645) of Chinese SALS patients, implying that it is an uncommon genetic determinant of ALS in Chinese patients.
Our study demonstrates that mutations located specifically in a C-terminal hotspot of KIF5A can cause a classical amyotrophic lateral sclerosis phenotype, and underline the involvement of intracellular transport processes in amyotrophic lateral sclerosis pathogenesis.