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Journal of Geriatric Psychiatry and Neurology, Vol. 19, No. 3, 186-191 (2006)
DOI: 10.1177/0891988706291091
© 2006 SAGE Publications

Genetics and Dementia Nosology

Deborah Blacker, MD, ScD

Department of Psychiatry, Mass General Hospital/Harvard Medical School, Boston, Massachusetts, Department of Epidemiology, Harvard School of Public Health, blacker{at}nmr.mgh.harvard.edu

Simon Lovestone, PhD, MRCPsych

MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College, London, UK

In preparation for the development of the Diagnostic and Statistical Manual of Mental Disorders (5th ed), the American Psychiatric Association convened workshops reviewing scientific evidence relevant to diagnosis of dementia. One of the domains covered was genetics, which is reviewed here. The following areas are reviewed: genetic data on Alzheimer’s disease and other dementias; the impact of nosology on genetic research in terms of its potential to improve diagnostic sensitivity and specificity and to decrease heterogeneity; the impact of genetic research findings on nosology, specific diagnostic criteria, and subtypes; and recommendations and future directions. The focus is on Alzheimer’s disease, where more genetic data are available, and other dementias are reviewed more briefly. In addition, a separate section reviews the relationship of genetic findings and mild cognitive impairment, a boundary zone between normal aging and dementia, particularly Alzheimer’s disease. (J Geriatr Psychiatry Neurol 2006;19:186-191)

Key Words: dementia • Alzheimer’s disease • DSM-V • genetics


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