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

Lookup NU author(s): Dr Maria Margallo-Lana, Dr Christopher Morris, Ai Tan, Dr Stephen Tyrer, Dr Brian Moore, Dr Clive Ballard


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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.

Publication metadata

Author(s): Margallo-Lana M, Morris CM, Gibson AM, Tan AL, Kay DWK, Tyrer SP, Moore B, Ballard CG

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2004

Volume: 62

Issue: 11

Pages: 1996-1998

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1212/01.WNL.0000129275.13169.BE

PubMed id: 15184603


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