Each affected individual met NINCDS-ADRDA criteria for probable or definite AD with age at onset greater than 60 years, as determined from specific probe questions within the clinical history provided by a reliable family informant or from documentation of significant cognitive impairment in the medical record. Cognitively healthy controls were unrelated individuals from the same catchment areas and frequency matched by age and gender, and had a documented MMSE or 3MS score in the normal range.
Samples sequenced in ADSP-FUS1 include participants from the John P. Hussman Institute for Human Genomics (HIHG) Brain Bank. The HIHG Brain, Bank autopsy individuals followed the typical clinical course of disease. This sample is a clinic and community outreach sample ascertained in North and South Carolina and Virginia.