CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts & leukoencephalopathy)

Pathology

• nonhypertensive cerebral small-vessel arteriopathy with subcortical infarcts
• arteriosclerosis associated with intimal thickening & dense collagen fibers, loss of vascular smooth-muscle cells, & hyaline degeneration of the tunica media in cerebral small arteries

Genetics

• autosomal recessive
• associated with defects in HTRA1

Clinical manifestations

• onset in early adulthood
• premature alopecia, predominantly in male patients in 2nd decade of life
• spondylosis, low back pain

Radiology

• MRI
  • disk herniation & spondylosis deformans, at thoracic & upper lumbar levels

Differential diagnosis

• CADASIL
  • symptom onset in CARASIL ~ 10-15 years earlier than in CADASIL
  • memory dysfunction appears to be more severe in CARASIL than CADASIL

More specific terms

• genetic disease of the central nervous system

Additional terms

• CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts & leukoencephalopathy)

Database

• OMIM: https://mirror.omim.org/entry/600142