Τίτλος:
The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2017, © The Author(s) 2017.
Συγγραφείς:
Bougea, A.
Velonakis, G.
Spantideas, N.
Anagnostou, E.
Paraskevas, G.
Kapaki, E.
Kararizou, E.
Περιοδικό:
Neuroradiology Journal
Εκδότης:
SAGE Publications Inc.
Λέξεις-κλειδιά:
serine proteinase, adult; alopecia; arthropathy; Article; brain cortex lesion; CADASIL; case report; cerebrovascular disease; clinical article; corona radiata (brain); electrophoresis; gene; gene mutation; genetic screening; hair loss; high temperature requirement A serine peptidase I gene; human; leukoencephalopathy; male; neurologic examination; nuclear magnetic resonance imaging; perception deafness; vertigo; brain infarction; diagnostic imaging; differential diagnosis; Greece; neuropsychological test; procedures; spine disease, Adult; Alopecia; Cerebral Infarction; Diagnosis, Differential; Greece; Humans; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Neuropsychological Tests; Spinal Diseases
DOI:
10.1177/1971400917700168
