An African American family with earlyonset Alzheimer disease and an APP (T714I) mutation

被引：36

作者：

Edwards-Lee, T

Ringman, JM

Chung, J

Werner, J

Morgan, A

Hyslop, PS

Thompson, P

Dutton, R

Mlikotic, A

Rogaeva, E

Hardy, J

机构：

[1] NIH, Neurogenet Lab, NIA, Bethesda, MD 20892 USA

[2] Harbor UCLA Med Ctr, Dept Neurol, Torrance, CA 90509 USA

[3] Harbor UCLA Med Ctr, Dept Psychiat, Torrance, CA 90509 USA

[4] Harbor UCLA Med Ctr, Dept Radiol, Torrance, CA 90509 USA

[5] Univ Calif Los Angeles, Dept Neurol, Lab Neuroimaging, Los Angeles, CA 90024 USA

[6] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[7] Univ Hlth Network, Dept Med, Div Neurol, Toronto, ON, Canada

来源：

NEUROLOGY | 2005年 / 64卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000149761.70566.3E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease. The clinical characteristics were an unusually early onset of disease (early 30s), similar to a previously reported age at onset of this mutation in an Austrian family. Distinct from that family, seizures and myoclonus were prominent features of the disease in this kindred.

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页码：377 / 379

页数：3

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