Orphanet: Cerebral autosomal recessive arteriopathy subcortical infarcts leukoencephalopathy
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Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Disease definition

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

ORPHA:199354

Classification level: Disorder
  • Synonym(s):
    • CARASIL
    • Maeda syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: F01.1
  • OMIM: 600142
  • UMLS: C1838577
  • MeSH: -
  • GARD: 10424
  • MedDRA: -

Detailed information

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