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

被引：2

作者：

Sipila, Jussi O. T. ^{[1
,2
]}

Kytovuori, Laura ^{[3
,4
,5
,6
]}

Rauramaa, Tuomas ^{[7
]}

Rauhamaa, Hugo ^{[3
,4
,5
,6
]}

Kaasinen, Valtteri ^{[1
,8
]}

Majamaa, Kari ^{[3
,4
,5
,6
]}

机构：

[1] Univ Turku, Clin Neurosci, Turku, Finland

[2] Siun Sote North Karel Cent Hosp, Dept Neurol, Joensuu, Finland

[3] Oulu Univ Hosp, Res Unit Clin Med, Oulu, Finland

[4] Oulu Univ Hosp, Med Res Ctr Oulu, Oulu, Finland

[5] Univ Oulu, Oulu, Finland

[6] Oulu Univ Hosp, Neuroctr, Neurol, Oulu, Finland

[7] Univ Eastern Finland, Inst Clin Med, Unit Pathol, Kuopio, Finland

[8] Turku Univ Hosp, Neuroctr, Turku, Finland

来源：

NPJ PARKINSONS DISEASE | 2023年 / 9卷 / 01期

关键词：

PARKINSONS-DISEASE; GBA MUTATIONS; SURVIVAL; DEMENTIA;

D O I：

10.1038/s41531-023-00501-4

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页数：6

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