Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.
Lais Machado de OliveiraTara RastinGraeme A M NimmoJay P RossPatrick A DionMing ZhangDayna-Lynn NevayDavid ArkadirMarc GotkineCarolina BarnettChristen L ShoesmithAri ZimranEkaterina A RogaevaLorne ZinmanGuy A RouleauZiv Gan-OrDominick AmatoLorraine V KaliaPublished in: Neurology. Genetics (2021)
The occurrence of ALS in biallelic or monoallelic GBA mutation carriers described here, in addition to common pathogenic pathways shared by GD1 and ALS, suggests that GBA variants could influence ALS risk. However, analyses of GBA variants in ALS cohorts did not reveal a meaningful association. Examination of larger cohorts and neuropathologic studies will be required to elucidate whether patients with GD1 are indeed at increased risk for ALS.