title: The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation.
abstract: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) was previously considered a rare, early-onset recessive form of small-vessel disease (SVD) caused by biallelic mutations in the serine protease gene HTRA1 with subsequent loss of its activity. However, very recently, there is growing interest of research showing heterozygous HTRA1 mutations as causes of SVD with a dominant inheritance pattern. This first Greek heterozygous CARASIL case with unusual clinico-radiological presentation extends our very recent knowledge on how heterozygous CARASIL mutations may be associated with cerebral SVD. Our findings highlight heterozygous HTRA1 mutations as an important cause of familial SVD, and that screening of HTRA1 should be considered in all patients with a hereditary SVD of unknown aetiology.
authors.affiliation: 1 First Department of Neurology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Bougea
authors.affiliation: 2 Research Unit of Radiology and Medical Imaging, Second Department of Radiology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Velonakis
authors.affiliation: 1 First Department of Neurology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Spantideas
authors.affiliation: 1 First Department of Neurology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
authors.forename: Evangelos
authors.initials: E
authors.lastname: Anagnostou
authors.affiliation: 1 First Department of Neurology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Paraskevas
authors.affiliation: 1 First Department of Neurology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kapaki
authors.affiliation: 1 First Department of Neurology, National and Kapodistrian University of Athens Medical School, Aeginition Hospital, Greece.
authors.forename: Evangelia
authors.initials: E
authors.lastname: Kararizou
mesh_terms: D000328:Adult; D000505:Alopecia / Q000000981:diagnostic imaging*; D002544:Cerebral Infarction / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D006115:Greece; D006801:Humans; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009483:Neuropsychological Tests; D013122:Spinal Diseases / Q000000981:diagnostic imaging*
keywords: Cerebral autosomal recessive arteriopathy subcortical infarcts; heterozygous mutations; leukoencephalopathy (CARASIL); serine protease gene HTRA1; small-vessel disease