CARASIL
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
CARASIL. This is caused by mutations in HTRA1 gene, Most cases are in Japan, Cases have been reported in Caucasians. Fully referenced neurology checklist.
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
Locked: subscribe to see this section.
Other clinical features
Locked: subscribe to see this section.
Differential diagnosis
Locked: subscribe to see this section.
Magnetic resonance imaging (MRI): location of T2 hyperintensities
Locked: subscribe to see this section.
Magnetic resonance imaging (MRI): susceptibility weighted imaging features
Locked: subscribe to see this section.
Acronym
Locked: subscribe to see this section.
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.
- And 5 more. Subscribe to see the full list
