TY - JOUR T1 - Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) JF - Practical Neurology JO - Pract Neurol SP - 448 LP - 451 DO - 10.1136/practneurol-2021-003058 VL - 21 IS - 5 AU - Rhea YY Tan AU - Anna M Drazyk AU - Kathryn Urankar AU - Clare Bailey AU - Stefan Gräf AU - Hugh Markus AU - Nicola J Giffin Y1 - 2021/10/01 UR - http://pn.bmj.com/content/21/5/448.abstract N2 - 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. He died at the age of 46 years and postmortem brain examination showed widespread small vessel changes described as a vasculopathy of unknown cause. Seven years postmortem, whole-genome sequencing identified a homozygous nonsense HTRA1 mutation (p.Arg302Ter), giving a retrospective diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.Additional data on extensive investigations carried out on this patient prior to arrival at a diagnosis can be made available on request. ER -