University of Oulu

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).

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

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Author: Sipilä, Jussi O. T.1,2; Kytövuori, Laura3,4; Rauramaa, Tuomas5;
Organizations: 1Clinical Neurosciences, University of Turku, Turku, Finland
2Department of Neurology, Siun Sote North Karelia Central Hospital, Joensuu, Finland
3Research Unit of Clinical Medicine and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
4Neurocenter, Neurology, Oulu University Hospital, Oulu, Finland
5Unit of Pathology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland
6Neurocenter, Turku University Hospital, Turku, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 1 MB)
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Language: English
Published: Springer Nature, 2023
Publish Date: 2023-09-18


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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Series: npj Parkinson's disease
ISSN: 2373-8057
ISSN-E: 2373-8057
ISSN-L: 2373-8057
Volume: 9
Issue: 1
Article number: 53
DOI: 10.1038/s41531-023-00501-4
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Funding: This study was funded by grants from Sigrid Jusélius Foundation, from Yrjö Jahnsson Foundation and from Finnish Parkinson Foundation. The study received funding from Medical Research Center Oulu and state research funding from Oulu University Hospital.
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