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Cerebra autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, inherited cause of early stroke and dementia, with a poor prognosis. This study was performed to clarify lesion appearance and pattern of lesion distribution in CADASIL. 20 members of a single family were tested for the CADASIL gene mutation and studied with cranial MRI. All eight patients with abnormal cranial MRI had subcortical white matter abnormalities, mostly in frontal and temporal lobes. Lesions involving the corpus callosum were present on sagittal T2 weighted images in four of five clinically affected and one of three clinically unaffected patients. Lesions involving the deep grey nuclei and the brain stem were common. On T1 weighted images, lesions were either poorly defined (confluent white matter hypointensity) or well defined (cystic infarcts or enlarged perivascular spaces). Atrophy was infrequent. Familiarity with the range of cranial MRI appearances may aid diagnosis of CADASIL. Recognition of cranial imaging features in asymptomatic CADASIL patients could prompt earlier diagnosis. |
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asymptomatic brainstem,lesion of cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy cerebral infarction cerebral infarction,subcortical cerebrovascular accident cerebrovascular accident,familial occurrence cerebrovascular accident,genetic cerebrovascular accident,location of corpus callosum corpus callosum,infarction of corpus callosum,lesion of cystic infarction deep gray nuclei familial gene mutation genetic neurologic disorders leukoencephalopathy MRI MRI,abnormal MRI,black holes on review article small vessel disease white matter disease white matter disease,location
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