Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome.
Klearchos PsychogiosGeorgia XiromerisiouOdysseas KargiotisApostolos SafourisAidonio FiolakiAnastasios BonakisGeorgios P ParaskevasSotirios GiannopoulosGeorgios TsivgoulisPublished in: European journal of neurology (2021)
We report a novel amyloid precursor protein mutation which results in a CADASIL-like clinical phenotype (progressive cognitive and motor decline, stroke, migraine and behavioral disorders) and CADASIL-leukoencephalopathy coupled with occipital calcifications. Earlier recognition and swift hCAA diagnosis may prompt rational preventive and potential disease-modifying interventions.