Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).
case_report · Level V
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- Record sourced from PubMed, PMID 14581682.
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Abstract
The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).
Medical subject headings
- Alzheimer Disease
- Membrane Proteins
- Mutation