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De Novo Mutation in the Notch3 Gene Causing CADASIL
Ann Neurol 47:388-391, Joutel,A.,et al, 2000
See this aricle in Pubmed

Article Abstract
CADASIL, an autosomal dominant arteriopathy responsible for stroke and dementia, is caused by strongly stereotyped mutations in the Notch3 gene. We report a patient with a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms. This patient carried a heterozygous Arg182Cys mutation in the Notch3 gene; this mutation was absent in his two biological parents. These data de monstrate the occurrence of a de novo noninherited mutation in the Notch3 gene, which indicates that CADASIL should not be rejected in the absence of a family history. Therefore, our finding suggests that CADASIL may be more frequent than anticipated.
 
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arteriopathy
basal ganglia,lesion of
cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy
cerebral infarction,subcortical
cerebrovascular accident,familial occurrence
cerebrovascular accident,recurrent
cerebrovascular accident,young adult
dementia
dementia,cerebrovascular disease causing
familial
gene mutation
genetic neurologic disorders
migraine
misdiagnosis
MRI,abnormal
multiple sclerosis
multiple sclerosis,misdiagnosis
Notch3 gene
skin,biopsy
white matter disease

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