Shifting the CARASIL Paradigm. Issue 4 (April 2015)

• Record Type: Journal Article
• Authors: Menezes Cordeiro, Inês; Nzwalo, Hipólito; Sá, Francisca; Ferreira, Rita Bastos; Alonso, Isabel; Afonso, Luís; Basílio, Carlos
• Is Part Of: Stroke. Volume 46:Issue 4(2015)
• Publication Date: 2015-04
• Subjects: Cerebrovascular disease -- Periodicals; Cerebral circulation -- Periodicals; 616.81
• DOI: 10.1161/STROKEAHA.114.006735
• Languages: English
• ISSNs: 0039-2499

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <title>Background and Purpose—</title> <p>Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral small-vessel disease caused by mutations in the <italic>HTRA1</italic> gene. CARASIL is characterized by early adulthood onset of subcortical infarcts, cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population.</p> </sec> <sec> <title>Methods—</title> <p>Description of the clinical, imaging, and genetic study of 2 siblings with CARASIL, with a brief comparative review of published non-Asian cases of the disease.</p> </sec> <sec> <title>Results—</title> <p>Both patients exhibited the typical phenotype: cerebral small-vessel disease, spondylosis, and abnormal hair lost. Mutation screening was performed for <italic>NOTCH3</italic> and <italic>HTRA1</italic> genes. No mutations were found in <italic>NOTCH3</italic>. The study revealed the presence of a homozygous c.496C&gt;T substitution in <italic>HTRA1</italic> in both siblings.</p> </sec> <sec> <title>Conclusion—</title> <p>This report highlights the need of considering this entity in the differential diagnosis of cerebral small-vessel disease in young patients, even in the non-Asian populations.</p> </sec> </abstract>