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...

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Veröffentlicht in:NPJ Parkinson's Disease 2023-04, Vol.9 (1), p.53-53, Article 53
Hauptverfasser: Sipilä, Jussi O. T., Kytövuori, Laura, Rauramaa, Tuomas, Rauhamaa, Hugo, Kaasinen, Valtteri, Majamaa, Kari
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Sprache:eng
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Zusammenfassung: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.
ISSN:2373-8057
2373-8057
DOI:10.1038/s41531-023-00501-4