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[A case of amyloid-β-related cerebral angiitis with ApoE ε4/ε2 genotype]

Aya Ogura1, Hideyuki Moriyoshi, Noriyoshi Nakai

  • 1Department of Neurology, Stroke Center, TOYOTA Memorial Hospital.

Rinsho Shinkeigaku = Clinical Neurology
|June 19, 2015
PubMed

Insights

This study presents a rare case of amyloid-β-related angiitis (ABRA) in a patient with a unique ApoE genotype. Steroid therapy effectively treated intractable seizures and improved MRI abnormalities, highlighting ApoE

Area of Science:

  • Neurology
  • Neuroradiology
  • Immunology

Background:

  • Amyloid-β-related angiitis (ABRA) is a rare inflammatory cerebrovascular disease.
  • Cerebral amyloid angiopathy (CAA) is associated with amyloid-β (Aβ) deposition in cerebral vessels.

Observation:

  • A 53-year-old male presented with gait disturbance and cognitive dysfunction.
  • Cranial MRI revealed a right occipital lobe lesion with sulcal enhancement.
  • Brain biopsy confirmed ABRA diagnosis.
  • Patient experienced intractable seizures post-biopsy, unresponsive to antiepileptic drugs (AEDs).

Findings:

  • Steroid therapy led to dramatic improvement in seizures and MRI abnormalities.
  • The patient possessed a rare ε4/ε2 Apolipoprotein E (ApoE) genotype, unlike the common ε4/ε4 in ABRA.
  • The ε4 allele may promote Aβ deposition, while ε2 might trigger inflammation or rupture.
  • Surgical stress in the context of the ε2 allele may have induced seizures.

Implications:

  • ApoE genotype may serve as a predictive marker for ABRA susceptibility.
  • ApoE genotyping could help assess the risk of complications, such as seizures, following brain biopsy in ABRA patients.
  • Understanding the role of different ApoE alleles in ABRA pathogenesis is crucial for patient management.

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