A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
case_report · Level V
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- Record sourced from PubMed, PMID 11796781.
- Also identified by PMC identifier 1737723.
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Abstract
A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances. The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism.
Medical subject headings
- Alzheimer Disease
- Membrane Proteins
- Mental Disorders