Rinsho Shinkeigaku (Clinical Neurology)

Case Report

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

Aya Ogura, M.D.1), Hideyuki Moriyoshi, M.D.1), Noriyoshi Nakai, M.D.1), Suguru Nishida, M.D.1), Satoshi Kitagawa, M.D., Ph.D.2), Mari Yoshida, M.D., Ph.D.3), Takeshi Yasuda, M.D., Ph.D.1) and Yasuhiro Ito, M.D., Ph.D.1)

1)Department of Neurology, Stroke Center, TOYOTA Memorial Hospital
2)Department of Clinical Laboratory, TOYOTA Memorial Hospital
3)Institute for Medical Science of Aging, Aichi Medical University

A 53-year-old male with a past medical history of hypertension and bipolar disorder gradually developed gait disturbance and cognitive dysfunction over half a year. His cranial MRI showed an area of hyperintensity in the right occipital lobe on T2 weighted images and the surface of the lesion was enhanced along the sulci. We diagnosed his condition as amyloid-β-related angiitis (ABRA) based on brain biopsy. Repeated, frequent seizures resistant to several antiepileptic drugs (AEDs) occurred after the operation. Steroid therapy was effective and the symptoms, including the intractable seizures and MRI abnormalities dramatically improved. In contrast to the common wild type ε3/ε3 ApoE genotype, a majority of ABRA patients have ε4/ε4. However, in this case the rare ε4/ε2 type was detected. The ε4 allele is considered to promote Aβ deposition on the vessel wall, and ε2 is speculated to trigger vessel ruptures or vascular inflammation. Although seizure is not a common complication of brain biopsy, it occurred repeatedly and responded poorly to AEDs in this case. Surgical stress in this patient with ε2 probably induced the uncontrolled seizures. ApoE genotype may be an effective and low-invasive marker in case of suspected ABRA and in predicting the risks of the complication from brain biopsy.
Full Text of this Article in Japanese PDF (881K)

(CLINICA NEUROL, 55: 561|566, 2015)
key words: primary CNS vasculitis (PCNSV), amyloid-β-related angiitis, brain biopsy, seizure, apolipoprotein

(Received: 21-Nov-14)