The apolipoprotein E ε 4 allele does not influence the clinical expression of the amyloid precursor protein-gene codon 693 or 692 mutations
January 1994
Article
volume 36 pp 434-437.
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In 31 symptomatic and 5 asymptomatic carriers of the amyloid precursor protein (APP) gene codon 693 mutation, 10 family members without mutation, and 5 carriers of the APP gene codon 692 mutation (3 with early-onset Alzheimer dementia, 2 with cerebral hemorrhage), a high frequency of the apolipoprotein E epsilon 4 allele was found. Age at onset, age at death, occurrence of dementia, and number of strokes did not differ between APP gene mutation carriers with or without epsilon 4 allele, showing that the clinical expression of these APP mutations is not influenced by the apolipoprotein E gene.
Keywords
- Male
- Human
- Support, Non-U.S. Gov't
- Adult
- Aged
- Aged, 80 and over
- Female
- Middle Aged
- Immunohistochemistry
- Genotype
- Support, U.S. Gov't, P.H.S.
- Mutation/*genetics
- Alleles
- dementia
- Brain/pathology
- Apolipoproteins E/*genetics
- Alzheimer Disease/genetics
- 0 (Codon)
- Codon
- Amyloid beta-Protein Precursor/*genetics
- 0 (Apolipoproteins E)
- 0 (Amyloid beta-Protein Precursor)
- Amyloid Neuropathies/genetics/pathology
- Cerebral Hemorrhage/genetics/pathology
