Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

被引：164

作者：

Goker-Alpan, O.

Giasson, B. I.

Eblan, M. J.

Nguyen, J.

Hurtig, H. I.

Lee, V. M. -Y.

Trojanowski, J. Q.

Sidransky, E.

机构：

[1] NHGRI, Sect Mol Neurogenet, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] Univ Penn, Sch Med, Dept Pharmacol, Philadelphia, PA 19104 USA

[3] Univ Penn, Sch Med, Dept Neurol, Philadelphia, PA 19104 USA

[4] Univ Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

来源：

NEUROLOGY | 2006年 / 67卷 / 05期

关键词：

D O I：

10.1212/01.wnl.0000230215.41296.18

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The synucleinopathies are neurodegenerative disorders defined by inclusions composed of aberrantly fibrillized alpha-synuclein, but factors contributing to this process remain largely unknown. The authors examined the glucocerebrosidase gene in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson disease. Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of alpha-synuclein.

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页码：908 / 910

页数：3

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