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early-onset Alzheimer disease

Tuesday 28 February 2006

Etiology

- duplication of the APP locus on chromosome 21 in autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA)

  • Brains from individuals with APP duplication showed abundant parenchymal and vascular deposits of amyloid-beta peptides.
  • Duplication of the APP locus, resulting in accumulation of amyloid-beta peptides, causes ADEOAD with CAA.

References

- Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet. 2006 Jan;38(1):24-6. PMID: 16369530