familial Alzheimer's disease type 3 (FAD3), AD3 locus/presenilin-1 mutation associated
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Genetics
FAD3 results from mutations in the PS-1 gene that increase production of A4/42.[2] These mutations selectively increase the formation of A4/42 relative to A4/40.
Clinical manifestations
FAD3 is the most aggressive, earliest symptomatic form of familial Alzheimer's disease (FAD), commonly leading to onset of symptoms before age 50 & demise of the patient in their 60s.
Radiology
- functional MRI able to identify 2 phases of predementia[3]
- hyperactive phase increased hippocampal & frontotemporal activation during episodic memory task (20 years of age), followed by
- hypoactive phase decreased hippocampal & frontotemporal activation during episodic memory task (45 years of age)
More general terms
Additional terms
References
- ↑ Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995 Jun 29;375(6534):754-60. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7596406
- ↑ 2.0 2.1 Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11274343
- ↑ 3.0 3.1 Mandadori CR et al, Enhanced brain activity may precede the diagnosis of Alzheimer's disease by 30 years. Brain 2006, 129:2908 PMID: https://www.ncbi.nlm.nih.gov/pubmed/17012294