Molecular mapping of Alzheimer-type dementia in Down's syndrome

被引：273

作者：

Prasher, VP

Farrer, MJ

Kessling, AM

Fisher, EMC

West, RJ

Barber, PC

Butler, AC

机构：

[1] Univ Birmingham, Dept Psychiat, Birmingham, W Midlands, England

[2] Univ London Imperial Coll Sci Technol & Med, Northwick Pk & St Marks NHS Trust, Kennedy Galton Ctr, Acad Unit, Harrow, Middx, England

[3] St Marys Hosp, Sch Med, Dept Biochem & Mol Genet, Imperial Coll, London W2 1PG, England

[4] Queen Elizabeth Hosp, Dept Radiol, Birmingham B15 2TH, W Midlands, England

[5] Univ Birmingham, Dept Pathol, Birmingham, W Midlands, England

[6] Ridgehill Learning Disabil Serv, Dudley, England

来源：

ANNALS OF NEUROLOGY | 1998年 / 43卷 / 03期

关键词：

D O I：

10.1002/ana.410430316

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Previous research has hypothesized an association between Alzheimer's disease and the amyloid precursor protein (APP) gene found on chromosome 21. We report the case of a 78-year-old woman with Down's syndrome with partial trisomy 21 [46,XX,rec(21)dup q, inv(21) (p12q22.1)]. No evidence of Alzheimer's disease was found on neuropsychological, magnetic resonance imaging, and neuropathological assessment. The gene sequence for APP was present in only two copies. This case further supports the hypothesis that Alzheimer's disease is associated with trisomy for proximal chromosome 21.q, including the APP gene.

引用

页码：380 / 383

页数：4

共 22 条

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