Sipilä Jussi O T, Kytövuori Laura, Rauramaa Tuomas, Rauhamaa Hugo, Kaasinen Valtteri, Majamaa Kari
Clinical Neurosciences, University of Turku, Turku, Finland.
Department of Neurology, Siun Sote North Karelia Central Hospital, Joensuu, Finland.
NPJ Parkinsons Dis. 2023 Apr 5;9(1):53. doi: 10.1038/s41531-023-00501-4.
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.
据报道，葡萄糖脑苷脂酶基因（GBA1）的几种杂合变异会增加帕金森病（PD）和路易体痴呆（DLB）的风险。据报道，GBA1相关的帕金森病比特发性帕金森病更严重，且更有害的变异与更严重的临床表型相关。我们报告了一个家族，其GBA1基因存在杂合的p.Pro454Leu变异。该变异与一种严重且快速进展的路易体神经退行性疾病相关，该疾病在临床和病理上具有多样性。致病性预测算法和进化分析表明p.Pro454Leu是有害的。
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