DISEASE: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Entry
H01757 Disease
Name
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL
Description
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel disease with early adulthood onset subcortical infarcts, progressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. It has been found that CARASIL is associated with mutations in the HTRA1 gene encoding HtrA serine protease 1.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Cerebrovascular diseases
8B22 Certain specified cerebrovascular diseases
H01757 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H01757 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M
Title
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O
Title
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
