familial Alzheimer's disease type 1 (FAD1), APP associated

Introduction

FAD1 results from mutations in the gene for the amyloid precursor protein (APP) leading to increased production of the amyloid A4 peptide & increased deposition of A4 in amyloid plaques.

Genetics

9 such mutations are known (as of 01/2002).

• the Swedish double mutation precedes the beta-secretase cleavage site (2 sites)
• 5 mutations occur just C-terminal to the gamma-secretase site
• the other 2 sites are within the A4 region near the alpha-secretase site
  • there is some evidence that 1 of these sites increases the tendency for A4 to precipitate

Laboratory

• APP gene mutation

More general terms

• familial Alzheimer's disease (FAD)

More specific terms

• Dutch-type cerebral amyloid angiopathy
• FAD APP A692G mutation (FAD1)
• familial Alzheimer's disease [APP/VAL717GLY]
• familial Alzheimer's disease [APP/VAL717ILE]
• familial Alzheimer's disease [APP/VAL717PHE]
• Swedish FAD double mutation (FAD1)

Additional terms

• A4 amyloid peptide; beta-peptide
• amyloid precursor protein; A4/beta amyloid precursor protein (APP)
• APP secretase

Database

• OMIM: https://mirror.omim.org/entry/104760
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=351