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Source: Journal of Stroke and Cerebrovascular Diseases
Condition: Multiple Sclerosis
Countries: Saudi Arabia Health
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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an extremely rare hereditary cerebral small vessel disease caused by homozygous or compound heterozygous mutations in the gene coding for high-temperature requirement A serine peptidase 1 (HtrA1). Given the rare nature of the disease, delays in diagnosis and misdiagnosis are not uncommon. In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.1156C>T in exon 7 of the HTRA1 gene.
Source: Journal of Stroke and Cerebrovascular Diseases - June 20, 2023 Category: Neurology Authors: Bader Shirah, Hussein Algahtani, Raghad Algahtani, Ahmed Alfares, Ahmed Hassan Tags: Case Report Source Type: research
