A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene
Tekijät: Sipilä Jussi OT, Kytövuori Laura, Rauramaa Tuomas, Rauhamaa Hugo, Kaasinen Valtteri, Majamaa Kari
Kustantaja: NATURE PORTFOLIO
Julkaisuvuosi: 2023
Journal: NPJ Parkinson's disease
Tietokannassa oleva lehden nimi: NPJ PARKINSONS DISEASE
Lehden akronyymi: NPJ PARKINSONS DIS
Artikkelin numero: 53
Vuosikerta: 9
Sivujen määrä: 6
DOI: https://doi.org/10.1038/s41531-023-00501-4
Verkko-osoite: https://www.nature.com/articles/s41531-023-00501-4
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/179465149
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.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
