CARASIL
Evidence-based neurology checklist on carasil: Genetics This is caused by mutations in HTRA1 gene Most cases are in Japan Cases have been reported in Caucasians The onset age is 20-44 years Typical clinical features Other clinical features Differential diagnosis Magnetic resonance imaging (MRI):…
Genetics
- This is caused by mutations in HTRA1 gene
- Most cases are in Japan
- Cases have been reported in Caucasians
- The onset age is 20-44 years
Typical clinical features
Other clinical features
Differential diagnosis
Magnetic resonance imaging (MRI): location of T2 hyperintensities
Magnetic resonance imaging (MRI): susceptibility weighted imaging features
Acronym
References
- Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis 2011; 20:85-93.
- Yanagawa S, Ito N, Arima K, Ikeda S. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Neurology 2002; 58:817-820.
- Mendioroz M, Fernandez-Cadenas I, del Rio-Espinola A, et al. A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. Neurology 2010; 75:2033-2035.
- Bianchi S, Di Palma C, Gallus GN, et al. Two novel HTRA1 mutations in a European CARASIL patient. Neurology 2014; 82:898-900.
- Nishimoto Y, Shibata M, Nihonmatsu M, et al. A novel mutation in the HTRA1 gene causes CARASIL without alopecia. Neurology 2011; 76:1353-1355.
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