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From the Departments of Neurology and Psychiatry and Radiology (Drs. Edwards-Lee, Chung, and Mlikotic), HarborUCLA Medical Center, Torrance, and Laboratory of Neuroimaging (Drs. Thompson and Dutton), Department of Neurology (Dr. Ringman), University of California at Los Angeles, and Laboratory of Neurogenetics (Drs. Werner and Hardy), National Institute on Aging, NIH, Bethesda, MD; and Centre for Research in Neurodegenerative Diseases (Drs. Morgan, St. George Hyslop, and Rogaeva), University of Toronto, and Division of Neurology (Dr. St. George Hyslop), Department of Medicine, University Health Network, Toronto, Ontario, Canada.
Address correspondence and reprint requests to Dr. J. Hardy at Laboratory of Neurogenetics, National Institute on Aging, NIH, Bldg. 35, Rm. 1A1015, Bethesda, MD 20892; hardyj{at}mail.nih.gov
The occurrence of an APP T174I mutation is described in a large American family of African descent with Alzheimer disease. The clinical characteristics were an unusually early onset of disease (early 30s), similar to a previously reported age at onset of this mutation in an Austrian family. Distinct from that family, seizures and myoclonus were prominent features of the disease in this kindred.
Supported by the National Institute on Aging (NIA) Intramural Program and the DIADEM Consortium/Verum Foundation (J.W., J.H.); grants from the Canadian Institutes of Health Research, Alzheimer Society of Canada, Howard Hughes Medical Institute, and Canadian Genetic Diseases Network (P.S.G.H., E.R.); and the NIH (NIA K08 AG 22228) (J.M.R.).
Received April 29, 2004. Accepted in final form August 20, 2004.
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