Influence of the amyloid precursor protein locus on dementia in Down syndrome.

Margallo-Lana, M; Morris, C M; Gibson, A M; Tan, A L; Kay, D W K; Tyrer, S P; Moore, B P; Ballard, C G · Neurology · 2004

retrospective_cohort · Level III

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Abstract

The amyloid precursor protein (APP) locus on chromosome 21 influences the development of Alzheimer disease. The authors investigated the relationship between a tetranucleotide repeat on intron 7 of the APP gene and the age at onset of dementia in Down syndrome (DS). There was a 13-year difference in the age at onset of dementia in DS associated with the number of tetranucleotide repeat alleles in APP. APP is an important locus predicting the age at onset of dementia in people with Down syndrome.

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