Familial Alzheimer disease

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By Francisco Lopera MD

Alzheimer disease is the most common cause of late-life dementia; it can begin either in individuals aged 65 years or less (early onset) or after the age of 65 years (late onset). It can also be classified as familial or sporadic. Those instances in which a clear pattern of inheritance within a family is established are termed “familial Alzheimer disease.” Such cases do not seem to be different from those with the sporadic form of this illness. In this clinical article, Dr. Francisco Lopera discusses the genetic aspects of familial Alzheimer disease, and in the most recent update, he addresses new evidence of clinical heterogeneity in the disease and new loci of genetic risk factors for Alzheimer disease: TOMM40, the clusterin (CLU) or APOJ gene, and the PICALM gene.

In This Article

Historical note and nomenclature
Clinical manifestations
Clinical vignette
Pathogenesis and pathophysiology
Differential diagnosis
Diagnostic workup
Prognosis and complications
References cited