familial Alzheimer's disease type 4 (FAD4), AD4 locus/presenilin-2 mutation associated

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Introduction

Early onset Alzheimer's disease identified in kindreds referred to as Volga-German families & 1 Italian family.

Genetics

FAD4 results from mutations in the PS-2 gene that increase production of A4/42.[2] These mutations selectively increase the formation of A4/42 relative to A4/40.

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References

  1. Levy-Lahad E, Wijsman EM, Nemens E, Anderson L, Goddard KA, Weber JL, Bird TD, Schellenberg GD. A familial Alzheimer's disease locus on chromosome 1. Science. 1995 Aug 18;269(5226):970-3. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7638621
  2. 2.0 2.1 Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995 Aug 18;269(5226):973-7. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7638622
  3. 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

Database