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Two Japanese CADASIL families with a R141C mutation in the Notch3 gene
T Murakami1, K Iwatsuki, T Hayashi
1Department of Neurology, Okayama University Graduate School of Medicine and Dentistry.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder. This study identifies two new Japanese families with the Notch3 R141C mutation, linked to unique corpus callosum lesions.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebrovascular disorder.
- It is caused by mutations in the Notch3 gene, leading to strokes and vascular dementia.
- Few Japanese families with CADASIL mutations have been reported previously.
Observation:
- This study reports two unrelated Japanese families with CADASIL.
- Both families carry the specific Notch3 gene missense mutation, R141C.
- A unique finding was the presence of specific lesions in the corpus callosum in affected individuals.
Findings:
- This is the first report detailing two unrelated Japanese CADASIL families with the Notch3 R141C mutation.
- The identified mutation is associated with distinct corpus callosum lesions.
- The findings highlight the presence of this specific CADASIL mutation in the Japanese population.
Implications:
- The study suggests a potential link between the Notch3 R141C mutation and corpus callosum lesions in CADASIL patients.
- This expands the understanding of CADASIL's genetic and phenotypic spectrum in Japan.
- Further research may elucidate the mechanism connecting this mutation to specific neurological manifestations.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks (TIA) and strokes, and vascular dementia with Notch3 gene mutations as the cause of the disease. To date, there are only a few Japanese families ever reported with a mutation in the gene. Here, we report two more Japanese CADASIL families carrying a missense mutation in the Notch3 gene (R141C) with a unique lesion in the corpus callosum. This is the first report of two unrelated Japanese CADASIL families with a R141C mutation in the Notch3 gene. Although the disease is very rare among the Japanese population, our result suggests a possible relationship of this particular mutation (R141C) with the lesions of the corpus callosum.