Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene

被引：22

作者：

Gourfinkel-An, I.

Duyckaerts, C.

Camuzat, A.

Meyrignac, C.

Sonderegger, P.

Baulac, M.

Brice, A.

机构：

[1] Hop La Pitie Salpetriere, Pole Epileptol Clin, INSERM, U679, F-75651 Paris 13, France

[2] Hop La Pitie Salpetriere, Lab Neuropathol R Escourolle, Paris, France

[3] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, Paris, France

[4] Hop La Pitie Salpetriere, Federat Neurol, Paris, France

[5] Ctr Hosp Intercommunal, Med Serv, Creteil, France

[6] Univ Zurich, Inst Biochem, Zurich, Switzerland

来源：

NEUROLOGY | 2007年 / 69卷 / 01期

关键词：

D O I：

10.1212/01.wnl.0000265052.99144.b5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum.

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页码：79 / 83

页数：5

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