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NEUROLOGY 2004;62:1996-1998
© 2004 American Academy of Neurology

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

M. Margallo-Lana, MRC Psych, MD, C. M. Morris, PhD, A. M. Gibson, A. L. Tan, BSc, D. W.K. Kay, MRC Psych, MD, S. P. Tyrer, MRC Psych, MD, B. P. Moore, PhD and C. G. Ballard, MRC Psych, MD

From the Institute for Ageing and Health (Drs. Margallo-Lana and Ballard), Newcastle, UK; Medical Research Building (Dr. Morris, A.M. Gibson and A.L. Tan), Newcastle, UK; Department of Psychiatry (Drs. Tyrer and Moore), University of Newcastle, UK; and Prudhoe Hospital (Dr. Kay), Northumberland, UK.

Address correspondence and reprint requests to Dr. C.G. Ballard, Institute for Ageing and Health, Wolfson Research Centre, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, NE4 6BE, UK; e-mail: c.g.ballard{at}ncl.ac.uk

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.

Received August 22, 2003. Accepted in final form March 22, 2004.




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