Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
Sign Up to like & getrecommendations! Published in 2021 at "Practical Neurology"
DOI: 10.1136/practneurol-2021-003058
Abstract: A 44-year-old Caucasian man presented with seizures and cognitive impairment. He had marked retinal drusen, and MR brain scan showed features of cerebral small vessel disease; he was diagnosed with a leukoencephalopathy of uncertain cause.… read more here.
Keywords: infarcts leukoencephalopathy; subcortical infarcts; autosomal recessive; recessive arteriopathy ... See more keywords
Abstract 38: New Mutations Linked to Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy in Africa and North America
Sign Up to like & getrecommendations! Published in 2020 at "Stroke"
DOI: 10.1161/str.51.suppl_1.38
Abstract: Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary disease. It is linked to mutations in the high-temperature requirement A serine peptidase 1 gene ( HTRA1 ). The clinical… read more here.
Keywords: cerebral autosomal; carasil; autosomal recessive; subcortical infarcts ... See more keywords