familial Alzheimer's disease (FAD)
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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
More general terms
More specific terms
- 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
Additional terms
References
- ↑ 1.0 1.1 Balasa M et al Clinical features and APOE genotype of pathologically proven early-onset Alzheimer disease Neurology May 17, 2011 76:1720-1725 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/21576687 <Internet> http://www.neurology.org/content/76/20/1720.abstract
- ↑ 2.0 2.1 Bateman RJ et al. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 2012 Jul 12 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/22784036 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1202753