Cathepsin-A Related Arteriopathy with Strokes And Leukoencephalopathy (CARASAL)
Autosomal dominant or sporadic
Inheritance from one parent will result in the disease
Age range at onset:
Typically 40 to 50 years
Specialists you may see:
CARASAL is a condition in which the small blood vessels in the brain are progressively damaged in a way similar to CADASIL. CARASAL is much more rare than CADASIL and was only identified in 2016. Symptoms include young stroke, cognitive problems and increased muscle tone (spasticity). Severe hypertension can occur and should be managed aggressively to reduce the risk of progressive small vessel disease.
Mutations in the gene CTSA cause CARASAL. To date, a common mutation as been found responsible for al patients with CARASAL. It is unclear how this mutation leads to a leukoencephalopathy, but it is thought to be related to the breakdown of a protein called endothelin-1