General: There are no generally accepted means of diagnosing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The specific symptoms, age of onset, and course of the disease help a clinician better understand the disorder in an individual patient. Key features that might cause a clinician to suspect CADASIL include stroke or TIA before age 60, changes in cognitive function, behavioral changes or problems, and migraine with aura, the signs that precede onset of the headache. In addition, a thorough family history should be obtained. Additional evaluations should include a focus on neurological and psychiatric issues.
Biopsy: In a biopsy, a small sample of tissue is removed from the body and analyzed in a laboratory. To diagnose CADASIL, a skin biopsy may be performed. Under an electron microscope, the walls of the blood vessels can be evaluated for changes associated with the disease. A biopsy can also detect destruction of the cells in the muscle tissue surrounding the small blood vessels.
Imaging: Magnetic resonance imaging (MRI) of the brain may reveal changes in electrical activity indicating epilepsy, changes in the blood vessels in certain parts of the brain, or evidence of past bleeding in the brain.
Genetic testing: If CADASIL is suspected, a genetic test may be performed to confirm a diagnosis. A sample of the patient's blood is taken and analyzed in a laboratory for the defect in the NOTCH3 gene. If this mutation is detected, a positive diagnosis is made.
Prenatal DNA testing: If there is a family history of CADASIL, prenatal testing may be performed to determine whether the fetus has the disorder. Amniocentesis and chorionic villus sampling (CVS) can diagnose CADASIL. However, because there are serious risks associated with these tests, patients should discuss the potential health benefits and risks with a medical professional.
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