By Judy George
Source: medpagetoday
The APOE4 variant may be more than just a genetic risk factor for Alzheimer’s disease, new data from several cohorts suggested.
Clinical, pathological, and biomarker changes indicated that APOE4 homozygotes may have a distinct, genetically determined form of Alzheimer’s, according to Juan Fortea, MD, PhD, of the Hospital of Sant Pau in Barcelona, Spain, and co-authors.
In an analysis spanning several cohorts, almost all APOE4 homozygotes had Alzheimer’s pathology and significantly higher levels of Alzheimer’s biomarkers from age 55 compared with APOE3 homozygotes. By age 65, nearly all had abnormal cerebrospinal fluid (CSF) levels, and 75% had positive amyloid scans, Fortea and colleagues reported in Nature Medicineopens in a new tab or window. The prevalence of these markers increased with age, reaching almost full penetrance over time.
“What we found was that individuals who had two copies of the APOE4 gene developed signs of Alzheimer’s disease; over 95% had Alzheimer’s disease pathology, either in the brain or in the biomarkers that we analyzed,” Fortea said during a press conference.
Read more https://www.medpagetoday.com/neurology/alzheimersdisease/109993