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

✍ Scribed by Dr V. P. Prasher; Matthew J. Farrer; Anna M. Kessling; Elizabeth M. C. Fisher; R. J. West; P. C. Barber; A. C. Butler

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
887 KB
Volume
43
Category
Article
ISSN
0364-5134

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✦ Synopsis

Previous research has hypothesized an association between Alzheimer's disease and the amyloid precursor protein W P ) 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(2l)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.

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## Abstract ## Background The risk for dementia in Alzheimer's disease (DAD) in adults with Down syndrome (DS) is higher than in the general adult population. Hypercholesterolaemia has been reported as a risk factor for DAD in the general population. This study investigated the role of serum chole