Several disease that are frequently used for differential diagnoses include Binswangers disease, CADASIL, Nasu-Hakula disease, and chronic progressive multiple sclerosis. Treatment
There is currently no treatment or cure for CARASIL. Most frequently, a combination of supportive care and medications to prevent the occurrence of stroke are recommended. Counseling or other forms of emotional support may be beneficial to both patients and family members. Medications or therapies may be used to treat specific symptoms of the disease. Tizanidine and baclofen may be used to treat the spasticity of the limbs. A walker or cane may be used to assist individuals with gait disturbances. Anxiolytics may be prescribed for mood changes. Prognosis
The prognosis for individuals with CARASIL is progressive neurological decline over the course of 10–20 years after the onset of symptoms, ultimately ending in death. CARASIL is a degenerative disease, and most patients live only 10 years past symptom onset, although some may live for 20–30 more years. Epidemiology
Of the approximately 50 cases worldwide, the majority were found in Japan, with a few cases in China, Spain, Portugal, and Romania. CARASIL appears to affect males more often than females. A ratio of 7.5 males to 1 female was observed in Japan. Research
Research consists primarily of case studies reporting observed cases of CARASIL, one study suggests that a possible future treatment option may be inhibition of TGF-β signaling by an angiotensin I receptor agonist, due to the fact that an excess of TGF-β signaling is involved in causing CARASIL.
When TGF-β activity goes unchecked, it alters the structure of the small blood vessels in the brain, increasing an individuals risk of stroke and other neurological abnormalities. Abnormally increased TGF-β activity is also suspected to be involved in the alopecia and lumbago seen in CARASIL patients, but that has not been confirmed and the mechanism is not yet known.CARASIL is a disease characterized by damage to the small blood vessels of the brain. When blood vessels in the brain are damaged, blood flow can be reduced or stopped leading to stroke. It can also lead to a variety of different symptoms depending on what area of the brain has lost its blood supply. This is what causes the spasticity in the limbs, slurred speech, urinary incontinence, and dysarthria seen in some patients.Progressive damage to and loss of the white matter, or myelinated areas, in the brain leads to some of the other neurological symptoms, such as forgetfulness progressing to dementia, mood changes, confusion, and apathy. Diagnosis
CARASIL can be tentatively diagnosed by a thorough medical history, examination of symptoms, differential diagnoses, and MRI scans of the brain. Diffuse white matter changes (leukoencephalopathy) and multiple lacunar infarcts in the basal ganglia of the thalamus are usually determining factors seen on MRI scans of affected individuals. Further genetic testing must be used to confirm the diagnosis.It is suspected that there are many cases of CARASIL that have not been diagnosed because of the similarities with other neurological disorders.