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Phenotype and imaging features associated with APP duplications.

Lou Grangeon1,2, Camille Charbonnier3, Aline Zarea4

  • 1Department of Neurology and CNR-MAJ, Univ Rouen Normandie, U1245 and CHU Rouen, 76000, Rouen, France. lou.grangeon@chu-rouen.fr.

Alzheimer'S Research & Therapy
|May 11, 2023
PubMed
Summary
This summary is machine-generated.

APP duplication, a rare genetic cause of Alzheimer disease, leads to diverse neurological symptoms including dementia, hemorrhage, and seizures. This genetic mutation results in severe amyloid buildup in cerebral vessels, characteristic of cerebral amyloid angiopathy.

Keywords:
APP duplicationAlzheimer diseaseAutosomal dominantCerebral MRICerebral amyloid angiopathy

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Amyloid precursor protein (APP) duplication is a rare genetic cause of Alzheimer disease (AD) and cerebral amyloid angiopathy (CAA).
  • Understanding the diverse clinical and radiological presentations of APP duplication carriers is crucial for diagnosis and management.

Purpose of the Study:

  • To evaluate the phenotypes of individuals carrying APP duplications.
  • To compare the features of APP duplication carriers with APP-negative cerebral amyloid angiopathy controls.

Main Methods:

  • Retrospective analysis of clinical, radiological, and neuropathological data from 43 APP duplication carriers across 24 French families.
  • Comparison of MRI features and cerebrospinal fluid (CSF) biomarkers between carriers and 40 APP-negative CAA controls.

Main Results:

  • 90.2% of symptomatic carriers developed major neurocognitive disorders, with 29.2% experiencing intracerebral hemorrhages and 51.2% seizures.
  • CSF Aβ42 levels were abnormal in most carriers (18/19), and 14/19 met MRI criteria for CAA.
  • Neuropathology revealed diffuse and severe CAA with thickened leptomeningeal vessels in all autopsied cases; Lewy bodies were found in some.

Conclusions:

  • APP duplications present heterogeneous phenotypes, including dementia, hemorrhage, and seizures, with varied radiological findings.
  • The amyloid burden is severe and widespread in cerebral vessels, positioning APP duplication as a significant model for studying CAA.
  • No correlation was found between duplication size and CAA radiological signs.