Format

Send to

Choose Destination
Ann Neurol. 1998 Mar;43(3):380-3.

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

Author information

1
Department of Psychiatry, University of Birmingham, United Kingdom.

Abstract

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 21q, including the APP gene.

PMID:
9506555
DOI:
10.1002/ana.410430316
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center