A1 Refereed original research article in a scientific journal
A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
Authors: Sipilä Jussi OT, Kytövuori Laura, Rauramaa Tuomas, Rauhamaa Hugo, Kaasinen Valtteri, Majamaa Kari
Publisher: NATURE PORTFOLIO
Publication year: 2023
Journal: NPJ Parkinson's disease
Journal name in source: NPJ PARKINSONS DISEASE
Journal acronym: NPJ PARKINSONS DIS
Article number: 53
Volume: 9
Number of pages: 6
DOI: https://doi.org/10.1038/s41531-023-00501-4
Web address : https://www.nature.com/articles/s41531-023-00501-4
Self-archived copy’s web address: 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.
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