The genetics of Familial Alzheimer's Disease

Evelyn A. Devine-Gage, Edmund C. Jenkins, W. Ted Brown, Nikolaos K. Robakis, Henryk M. Wisniewski

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Familial Alzheimer Disease (FAD) presents as a diagnostically unique disorder having an autosomal dominant form of inheritance with an age-dependent penetrance. Recent mapping of the FAD and beta-amyloid protein (AP) genes to human chromosome 21 has raised questions as to the role of AP in the development of FAD. The involvement of gene(s) on chromosome 21 in FAD was suggested because of the observation that individuals with Down Syndrome (DS) over the age of 40 all develop the neuropathological changes associated with AD. Refinement of the AP mapping has eliminated this locus as being the site of the primary genetic defect causing FAD. This leads to speculation as to the mutation(s) responsible for and the role of gene(s) on chromosome 21 involved in FAD.

Original languageEnglish
Pages (from-to)98-102
Number of pages5
Issue number3
StatePublished - Jul 1988
Externally publishedYes


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