BACKGROUND: The amyloid precursor protein (APP) locus on chromosome 21 influences the development of Alzheimer disease. METHOD: 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). RESULTS: 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. CONCLUSION: APP is an important locus predicting the age at onset of dementia in people with Down syndrome.
BACKGROUND: The amyloid precursor protein (APP) locus on chromosome 21 influences the development of Alzheimer disease. METHOD: 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). RESULTS: 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. CONCLUSION: APP is an important locus predicting the age at onset of dementia in people with Down syndrome.
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