A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene



: Sipilä Jussi OT, Kytövuori Laura, Rauramaa Tuomas, Rauhamaa Hugo, Kaasinen Valtteri, Majamaa Kari

Publisher: NATURE PORTFOLIO

: 2023

: NPJ Parkinson's disease

: NPJ PARKINSONS DISEASE

: NPJ PARKINSONS DIS

:  53

: 9

: 6

DOI: https://doi.org/10.1038/s41531-023-00501-4

: https://www.nature.com/articles/s41531-023-00501-4

: https://research.utu.fi/converis/portal/detail/Publication/179465149


Several heterozygous variants of the glucocerebrosidase gene (GBA1) have been reported to increase the risk of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). GBA1-associated PD has been reported to be more severe than idiopathic PD, and more deleterious variants are associated with more severe clinical phenotypes. We report a family with a heterozygous p.Pro454Leu variant in GBA1. The variant was associated with a severe and rapidly progressive neurodegenerative disease with Lewy bodies that were clinically and pathologically diverse. Pathogenicity prediction algorithms and evolutionary analyses suggested that p.Pro454Leu is deleterious.

Last updated on 2024-26-11 at 20:52