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GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol AD4
Location 1q41
HGNC id 184
Name Alzheimer disease 4
Other name(s) Alzheimer disease 4, early onset familial
Corresponding gene PSEN2
Main clinical features
  • adult onset progressive dementia before age 60 to 65 years . cerebral cortical atrophy by neuroimaging studies . beta-amyloid neuritic plaques and intraneuronal neurofibrillary tangles at postmortem examination
    • Genetic determination autosomal dominant
    Related entries AD1, AD3
    Function/system disorder psychiatric disorder
    Type disease
    Gene product
    Name presenilin 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     with an increase of the extracellular concentration of A beta 42(43)PSEN2
    Remark(s) - three forms of early onset familial AD caused by mutations in one of three genes APP(10-15 percent), PSEN1 (30-70 percent) and PSEN2 (<5 percent of patients) are recognised - mutations linked to familial Alzheimer disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism