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familial Alzheimer's disease (FAD)
Pathology:
- pathology begins > 20 years before clinical symptoms develop [2]
Genetics:
- 7 different genetic loci have been associated with familial forms of Alzheimer's disease (see genetics of Alzheimer's disease)
- individuals with Down's syndrome (trisomy 21) invariably develop early Alzheimer's disease
Clinical manifestations:
- 38% of early-onset cases may present without memory impairment
- may presnet with behavioral, executive function, visuospatial, or language problems [1]
Laboratory:
- presenilin-1 gene (PCR?) only available test
Interactions
disease interactions
Related
early-onset Alzheimer's disease
genetics of Alzheimer's disease
Specific
familial Alzheimer's disease type 1 (FAD1), APP associated
familial Alzheimer's disease type 2 (FAD2), apo E4 associated
familial Alzheimer's disease type 3 (FAD3), AD3 locus/presenilin-1 mutation associated
familial Alzheimer's disease type 4 (FAD4), AD4 locus/presenilin-2 mutation associated
familial Alzheimer's disease type 5 (FAD5), chromosome 12 associated
familial Alzheimer's disease type 6 (FAD6), chromosome 10q associated
familial Alzheimer's disease type 7 (FAD7), chromosome 10p associated
familial Alzheimer's disease type 8 (FAD8)
familial Alzheimer's disease with coexisting amyloid & prion pathology, early onset
familial Alzheimer's disease with mitochondrial mutation
General
Alzheimer's disease (AD)
genetic disease of the central nervous system
References
- Balasa M et al
Clinical features and APOE genotype of pathologically proven
early-onset Alzheimer disease
Neurology May 17, 2011 76:1720-1725
PMID: 21576687
http://www.neurology.org/content/76/20/1720.abstract
- Bateman RJ et al.
Clinical and biomarker changes in dominantly inherited
Alzheimer's disease.
N Engl J Med 2012 Jul 12
PMID: 22784036
http://www.nejm.org/doi/full/10.1056/NEJMoa1202753