SQSTM1 variant in disorders of the frontotemporal dementia –amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature

ConclusionAlthough rare, mutations in SQSTM1 can lead to various clinical subtypes of FTD and FTD-ALS, including the rare combination of PNFA and PBP. Exon missense mutation is the main type of mutation, which is common in the UBA domain.

http://link.springer.com/10.1007/s00415-020-10283-x

Source: Journal of Neurology - March 24, 2021 Category: Neurology Source Type: research