Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)

被引：53

作者：

Ellie, E

Camou, F

Vital, A

Rummens, C

Grateau, G

Delpech, M

Valleix, S

机构：

[1] Ctr Hosp Cote Basque, Serv Neurol, F-64100 Bayonne, France

[2] CHU Bordeaux, Neuropathol Lab, Bordeaux, France

[3] CHU Cochin, Lab Biochim Genet, Paris, France

来源：

NEUROLOGY | 2001年 / 57卷 / 01期

关键词：

D O I：

10.1212/WNL.57.1.135

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

CNS involvement is rare in systemic amyloidoses due to transthyretin (TTR) mutation and manifests as a combination of dementia, seizures, and myelopathy. The authors report two French siblings who experienced recurrent subarachnoid hemorrhages as the main clinical feature. Brain specimens showed that the leptomeningeal vessels walls were thickened by amyloid deposits, and sequencing of the TTR exons showed a heterozygous single base-pair transition from G to A (codon 53), resulting in a glycine for glutamic acid substitution (G53E).

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页码：135 / 137

页数：3

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