Notch3 gene의 R133C 돌연변이를 보인 CADASIL 1례
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CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary disorder leading to recurrent strokes and dementia. We report a case with CADASIL. The proband is a 40-year-old man with 2-year history of gait difficulty associated with multiple white matter abnormalities on brain MRI. His father and one of the four siblings also had histories of stroke. In two of three asymptomatic siblings, brain MRIs showed multiple subcortical infarcts. Genetic tests revealed R133C mutation of Notch3 gene. Korean Journal of Stroke 2001;3(1): 164~167
Abstract
CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary disorder leading to recurrent strokes and dementia. We report a case with CADASIL. The proband is a 40-year-old man with 2-year history of gait difficulty associated with multiple white matter abnormalities on brain MRI. His father and one of the four siblings also had histories of stroke. In two of three asymptomatic siblings, brain MRIs showed multiple subcortical infarcts. Genetic tests revealed R133C mutation of Notch3 gene. Korean Journal of Stroke 2001;3(1): 164~167