A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
Sipilä, Jussi O. T.; Kytövuori, Laura; Rauramaa, Tuomas; Rauhamaa, Hugo; Kaasinen, Valtteri; Majamaa, Kari (2023-04-05)
Sipilä, J.O.T., Kytövuori, L., Rauramaa, T. et al. A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene. npj Parkinsons Dis. 9, 53 (2023). https://doi.org/10.1038/s41531-023-00501-4
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https://urn.fi/URN:NBN:fi-fe20230918130140
Tiivistelmä
Abstract
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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