NOTCH3 MUTATION DETECTION; CADASIL

AUTOSOMAL DOMINANT CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL) IS A PROGRESSIVE DISORDER OF THE SMALL ARTERIAL VESSELS OF THE BRAIN, MANIFESTED AS MIGRAINE, STROKES, AND WHITE MATTER LESIONS, WITH RESULTANT COGNITIVE IMPAIRMENT IN SOME PATIENTS. AUTOSOMAL DOMINANT CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY TYPE 1 (CADASIL1) IS CAUSED BY HETEROZYGOUS MUTATIONS IN THE NOTCH3 GENE ON CHROMOSOME 19P13. THE DISORDER IS CHARACTERIZED BY RELAPSING STROKES WITH NEUROPSYCHIATRIC SYMPTOMS AND AFFECTS RELATIVELY YOUNG ADULTS OF BOTH SEXES. THIS TEST IS USEFUL FOR HOT SPOT MUTATION SCREENING OF EXON 3, 4, 5 AND 6 OF THE NOTCH3 GENE.