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GENATLAS PHENOTYPE

last update : 27-04-2011

Symbol	CARASIL
Location	10q26.1
Name	CARASIL syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leucoencephalopathy
Other name(s)	MAEDA syndrome
Corresponding gene	HTRA1
Main clinical features	young adult-onset progressive encephalopathy characterized by extrapyramidal features and dementia generalized rigidity, spastic ataxia, hyperreflexia, extensor plantar responses, pseudobulbar symptoms, and dementia with arteriosclerosis in the small arteries of the heart, spleen, kidneys, and brain, and degeneration of the white matter
Genetic determination	autosomal recessive
Function/system disorder	neurology
	cardiovascular
Type	disease

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