FUS mutation is probably the most common pathogenic gene for JALS, especially sporadic JALS.
Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe form of ALS. The development of gene sequencing methods has resulted in increased reports of JALS cases in recent years, and additional gene mutations in FUS have been identified. Fused in sarcoma (FUS) mutations, appeared rarely in classical ALS but indeed were the most frequent pathogenic mutations in JALS, especially in sporadic JALS. After studied the reports in the last 10 years about JALS cases, the case characteristics caused by FUS mutations and the commonality of the mutation sites were summarized in this review. FUS mutation associated with more than half of JALS and the very majority of sporadic JALS. It's worth noting that almost all of the mutations occur in nuclear localization signal (NLS) of FUS in sporadic JALS. This discovery emphasized a new perspective focus on NLS for the diagnosis and etiology of sporadic JALS as well as for further study about new treatment.
['Chen|L|L|']
D000690:Amyotrophic Lateral Sclerosis D006801:Humans D009154:Mutation D034702:RNA-Binding Protein FUS
Gene mutation Fused in sarcoma (FUS) Nuclear localization signal Neurodegenerative disease Sporadic juvenile amyotrophic lateral sclerosis