Cerebral Autosomal Recessive Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CARASIL)
Inheritance:
Autosomal recessive
Inheritance from both parents will result in the disease
Age range at onset:
20-50 years old
Specialists you may see:
Symptoms
Damage to cerebral small blood vessels in CARASIL causes cerebral symptoms including strokes. Increasing muscle tone, slurred speech, stiffness and spasticity in the legs, difficulties in swallowing and in bladder control, and gait disturbances are also common symptoms. Eventually, CARASIL leads to mental decline and dementia. Those with CARASIL can live for 20-30 years after diagnosis, but are often bedridden after 10 years.
Alopecia and spondylosis are also important symptoms, often beginning between the ages of 10 and 30, before neurological symptoms.
Cause
Mutations in the HTRA1 gene, which creates the HTRA1 protein, is the cause of CARASIL. Those with these mutations have an absence or reduced amount of HTRA1, which is therefore less able to carry out its purpose of repressing signalling of transforming growth factor (TGF)-beta family members.