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Molecular mapping of alzheimer‐type dementia in Down's syndrome
Author(s) -
Prasher V. P.,
Farrer Matthew J.,
Kessling Anna M.,
Fisher Elizabeth M. C.,
West R. J.,
Barber P. C.,
Butler A. C.
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410430316
Subject(s) - chromosome 21 , trisomy , down syndrome , dementia , alzheimer's disease , amyloid precursor protein , disease , tau protein , chromosome , medicine , gene , genetics , pathology , biology
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.