KEGG   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
Developmental disorder; Vascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H01757  Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
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
Gene
HTRA1 [HSA:5654] [KO:K08784]
Other DBs
ICD-11: 8B22.C1
ICD-10: F01.1
MeSH: C563990
OMIM: 600142
Reference
  Authors
Menezes Cordeiro I, Nzwalo H, Sa F, Ferreira RB, Alonso I, Afonso L, Basilio C
  Title
Shifting the CARASIL paradigm: report of a non-Asian family and literature review.
  Journal
Stroke 46:1110-2 (2015)
DOI:10.1161/STROKEAHA.114.006735
Reference
  Authors
Wang XL, Li CF, Guo HW, Cao BZ
  Title
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.
  Journal
CNS Neurosci Ther 18:867-9 (2012)
DOI:10.1111/j.1755-5949.2012.00373.x
LinkDB

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