AUTHOR=Xu Yin-Yan , Chen Shuai , Zhao Jian-Hua , Chen Xi-Ling , Zhang Jie-Wen 

TITLE=A Case of Cerebral Amyloid Angiopathy-Related Inflammation With the Rare Apolipoprotein ε2/ε2 Genotype

JOURNAL=Frontiers in Neurology

VOLUME=10

YEAR=2019

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2019.00547

DOI=10.3389/fneur.2019.00547

ISSN=1664-2295

ABSTRACT=<p>Cerebral amyloid angiopathy (CAA)-related inflammation (CAA-RI) is a rare CAA variant characterized by acute or subacute encephalopathy, headache, epilepsy, or focal neurological deficits. Radiologically, CAA-RI presents with widespread white matter lesions on brain magnetic resonance imaging (MRI) in addition to the hemorrhagic imaging features of CAA. Previous studies have found that the apolipoprotein E (<italic>ApoE</italic>) ε4 allele and ε4/ε4 genotype were over-represented in CAA-RI. The role of the <italic>ApoE</italic> ε2 allele in CAA-RI, however, is largely unknown, partly due to the rarity of the ε2/ε2 genotype in the general population. The authors report the first case of CAA-RI with the rare <italic>ApoE</italic> ε2/ε2 genotype. The patient presented with mild clinical symptoms but striking neuroimaging abnormalities. The response to small-dose glucocorticoids was satisfactory. Because <italic>ApoE</italic> ε2 promotes amyloid β accumulation and fibrinoid necrosis in the cerebral vasculature, the ε2/ε2 genotype, similar to ε4/ε4, may also be a precipitating factor for CAA-RI. To clarify the role of <italic>ApoE</italic> ε2 in CAA-RI, studies with large sample sizes investigating whether ε2 is more common in patients with CAA-RI than in those with CAA only are warranted.</p>