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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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