Alzheimer's Disease

NOTE: The distribution refers to a collection of studies organized by disorder or theme (see FAQ).  It is important to note that not all individuals in the distribution have DNA available.

Given the major public health implications of identifying genes responsible for severe neuropsychiatric disorders, the National Institute of Mental Health (NIMH) has funded a Human Genetics Initiative. The goal of this Initiative is to establish a national resource of clinical data and biomaterials that are collected from individuals with Alzheimer's disease (AD), schizophrenia, or bipolar I disorder, in order to aid researchers in understanding the genetic bases of these disorders. The NIMH Alzheimer's Disease Genetics Initiative is supported by the Office of Human Genetics & Genomic Resources in NIMH's Division of Neuroscience and Basic Behavioral Science (DNBBS). Since 1996 data and biomaterials (cell lines and DNA samples) have been available to qualified investigators who study the genetics of AD, and may be accessed by following a set of instructions.

AD pedigrees have been ascertained by three extramural sites (University of Alabama - Birmingham, Johns Hopkins University, and Massachusetts General Hospital/Harvard Medical School). Data collection has been coordinated among the three sites by using a common protocol that includes uniform assessments and medical, neurologic, and psychiatric histories. Each pedigree has at least two affected individuals who are biologically related as first-, second-, or third- degree (first cousins only) relatives.

The diagnostic process in the NIMH AD Genetics Initiative includes a systematic and comprehensive examination of all available information from autopsy records, family history, medical records, and patient and/or informant interviews. Definite AD according to age-adjusted Khachaturian criteria is diagnosed on autopsy. Operational criteria for the clinical diagnosis of probable or possible AD following NINCDS-ADRDA Work Group guidelines have been developed and are implemented by the three sites. Case summaries for all subjects with a clinical diagnosis of probable or possible AD are reviewed by the site PIs and a procedure has been implemented to establish a consensus diagnosis. Subjects are being followed longitudinally to track changes in diagnoses and to compare diagnoses by autopsy.

Anonymous data in the NIMH AD Genetics Initiative on family structure, age, sex, vital status, psychopathology, diagnosis, and other clinically relevant information, as well as lymphoblastoid cell lines and DNA, are stored, maintained and distributed by the NIMH Center for Genetic Studies. The Center is operated under an NIMH contract to Washington University and subcontract to Rutgers University.

List of Studies

Available for Download

Study Title Distributions PIs Grants Sites Target Sample Size GWAS Notes
AD 0 Genetic Studies of Alzheimer's Disease Alzheimer's Disease Albert, Bassett, Go 5U01MH046281, 5U01MH046290, 5U01MH046373 50-52 1411
Study 17 CATIE; Replication of Schizophrenia Associations in CATIE Alzheimer's Disease Lieberman, Sullivan N01MH090001, R01MH074027 Site 75-AD; Site 76-SZ 741

741 in NIMH SZ DS 13 (CATIE);291 in NIMH SZ 27;

In Progress*

No studies found.

Rutgers University Rutgers University USC Information Sciences Institute Washington University in St.Louis National Institute of Mental Health