Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) included 683 at-risk family members from 242 AD-affected families of Caribbean Hispanic descent. These families have 2 or more individuals affected with Alzheimer’s disease. A system of recruitment was also set up in the Dominican Republic with the help of several local physicians, including the president of the Dominican Society of Geriatrics and Gerontology. All affected and unaffected family members are evaluated in person both in the Dominican Republic and New York. A case was defined as any individual meeting NINCDS-ADRDA criteria for probable or possible LOAD. The Clinical Dementia Rating was used to rate the severity of dementia. Brain imaging and other laboratory study results were reviewed, when available, to ensure full implementation of the NINCDS-ADRDA criteria.
Once patients with LOAD were identified, their illnesses were documented with standardized neurological and neuropsychological evaluations. Structured family history interviews were then conducted with available family members to determine whether patients had living siblings or relatives with the disease. Medical and neurological examinations were completed for all family members. Brains of participants with dementia and history of stroke were administered magnetic resonance imaging scans to exclude patients with comorbid cerebrovascular disease. DNA samples and cell lines are stored for all participating individuals.
The goal of this study is to root out genetic variants that increase late onset Alzheimer disease risk in this ethnic group. This study was initiated in 1998 and recruited subjects from the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain in New York as well as from clinics in the Dominican Republic.