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

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 mo...

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Autores principales: Sipilä, Jussi O. T., Kytövuori, Laura, Rauramaa, Tuomas, Rauhamaa, Hugo, Kaasinen, Valtteri, Majamaa, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076383/
https://www.ncbi.nlm.nih.gov/pubmed/37019925
http://dx.doi.org/10.1038/s41531-023-00501-4
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author Sipilä, Jussi O. T.
Kytövuori, Laura
Rauramaa, Tuomas
Rauhamaa, Hugo
Kaasinen, Valtteri
Majamaa, Kari
author_facet Sipilä, Jussi O. T.
Kytövuori, Laura
Rauramaa, Tuomas
Rauhamaa, Hugo
Kaasinen, Valtteri
Majamaa, Kari
author_sort Sipilä, Jussi O. T.
collection PubMed
description 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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spelling pubmed-100763832023-04-07 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 NPJ Parkinsons Dis Case Report 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. Nature Publishing Group UK 2023-04-05 /pmc/articles/PMC10076383/ /pubmed/37019925 http://dx.doi.org/10.1038/s41531-023-00501-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access 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/) .
spellingShingle Case Report
Sipilä, Jussi O. T.
Kytövuori, Laura
Rauramaa, Tuomas
Rauhamaa, Hugo
Kaasinen, Valtteri
Majamaa, Kari
A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
title A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
title_full A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
title_fullStr A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
title_full_unstemmed A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
title_short A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
title_sort severe neurodegenerative disease with lewy bodies and a mutation in the glucocerebrosidase gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076383/
https://www.ncbi.nlm.nih.gov/pubmed/37019925
http://dx.doi.org/10.1038/s41531-023-00501-4
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