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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
Related
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts & leukoencephalopathy)
Specific
genetic disease of the central nervous system
Database Correlations
OMIM 600142
References
OMIM :accession 600142