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familial Alzheimer's disease type 3 (FAD3), AD3 locus/presenilin-1 mutation associated

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] a) hyperactive phase increased hippocampal & frontotemporal activation during episodic memory task (20 years of age), followed by b) hypoactive phase decreased hippocampal & frontotemporal activation during episodic memory task (45 years of age)

Interactions

disease interactions

Related

presenilin-1; PS-1; EC=3.4.23.-; protein S182; contains: presenilin-1 NTF subunit; contains: presenilin-1 CTF subunit; contains: presenilin-1 CTF12; PS1-CTF12 (PSEN1, AD3, PS1, PSNL1)

General

familial Alzheimer's disease (FAD)

Database Correlations

OMIM correlations MORBIDMAP correlations Entrez Gene 5663

References

  1. 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: 7596406
  2. Selkoe DJ. Alzheimer's disease: genes, proteins, and therapy. Physiol Rev. 2001 Apr;81(2):741-66. Review. PMID: 11274343
  3. Mandadori CR et al, Enhanced brain activity may precede the diagnosis of Alzheimer's disease by 30 years. Brain 2006, 129:2908 PMID: 17012294