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Two cases of Japanese CADASIL with corpus callosum lesion
K Iwatsuki1, T Murakami, Y Manabe
1Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University, Japan.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare genetic stroke disorder. This study reports a Japanese family with a Notch3 mutation and unique corpus callosum lesions causing constructional apraxia.
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare genetic disorder.
- It is characterized by recurrent strokes and progressive cognitive decline.
Observation:
- A Japanese family with CADASIL presented with a novel Arg141Cys missense mutation in the Notch3 gene.
- Neuroimaging revealed unique lesions predominantly affecting the corpus callosum.
Findings:
- Case 1 exhibited right-handed constructional apraxia, correlating with specific corpus callosum lesions.
- Lesions were observed along the pericallosal branches from the truncus to the posterior splenium of the corpus callosum.
Implications:
- This case suggests a potential link between specific corpus callosum regions and constructional apraxia in CADASIL.
- Further research is needed to fully elucidate the functional mapping of the corpus callosum in neurological disorders.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare hereditary stroke disease. In the present study, a Japanese CADASIL family was first reported with missense mutation of Arg141Cys of Notch3 and a unique lesion of corpus callosum. Upon neuropsychological examination, our case 1 showed only right-handed constructional apraxia associated with corpus callosum lesion. No other callosal disconnection signs were present. Sagittal T2 weighted image of case 1 showed multiple small lesions along with the pericallosal branches from the truncus to the posterior part of the splenium in the corpus callosum. Although detailed mapping of the corpus callosum for functional fractionation in humans remains incomplete, the constructional apraxia on the right may be related to callosal dysfunction from the truncus to the posterior part of the splenium in the corpus callosum.