|
|
A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene |
|---|---|
| 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) |
| Persistent link: | http://urn.fi/urn:nbn:fi-fe20230918130140 |
| Language: | English |
| Published: |
Springer Nature,
2023
|
| Publish Date: | 2023-09-18 |
| Description: |
AbstractSeveral 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. see all
|
| 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 |
| OADOI: | https://oadoi.org/10.1038/s41531-023-00501-4 |
| Type of Publication: |
A1 Journal article – refereed |
| Field of Science: |
3124 Neurology and psychiatry |
| Subjects: | |
| 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. |
| Copyright information: |
© The Author(s) 2023. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
|
https://creativecommons.org/licenses/by/4.0/ |