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[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]

H Axer1, S Hüge, C Wilhelm

  • 1Klinik für Psychiatrie und Psychotherapie, Friedrich-Schiller-Universität, Jena, Deutschland. Hubertus.Axer@med.uni-jena.de

Der Nervenarzt
|September 11, 2008
PubMed

Insights

Early-onset dementia was linked to amyloid precursor protein (APP) locus duplication. This genetic cause explains both Alzheimer's-like cerebrospinal fluid changes and cerebral amyloid angiopathy findings.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Early-onset dementia presents diagnostic challenges.
  • Autosomal dominant inheritance suggests a strong genetic component.
  • Distinguishing between Alzheimer's disease and other dementias is crucial.

Observation:

  • A patient presented with early-onset autosomal dominant dementia.
  • Cerebrospinal fluid (CSF) analysis revealed elevated tau and reduced amyloid beta (42:40 ratio), indicative of Alzheimer's disease.
  • Cerebral MRI showed vascular lesions, white-matter changes, and microhemorrhages, suggesting cerebral amyloid angiopathy.

Findings:

  • Gene analysis identified amyloid precursor protein (APP) locus duplication as the cause of hereditary Alzheimer's dementia.
  • The patient exhibited a combination of CSF biomarkers for Alzheimer's disease and MRI findings consistent with cerebral amyloid angiopathy.
  • This constellation of findings is characteristic of APP locus duplication.

Implications:

  • APP locus duplication should be considered in cases of early-onset dementia with a family history and specific neuroimaging/CSF findings.
  • Enhanced genetic analysis, including APP gene analysis, is recommended for such patients.
  • Understanding the genetic basis of dementia aids in diagnosis and potential therapeutic strategies.

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