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Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL
A Coulthard1, S C Blank, K Bushby
1Department of Radiology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) shows specific MRI patterns, including white matter abnormalities and deep grey nuclei lesions. Recognizing these features aids in early diagnosis, even in asymptomatic individuals.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder.
- It leads to early stroke, dementia, and has a poor prognosis.
Purpose of the Study:
- To clarify the lesion appearance and distribution patterns in CADASIL using cranial MRI.
- To correlate MRI findings with clinical status and genetic mutation status.
Main Methods:
- Cranial MRI was performed on 20 family members.
- Genetic testing for the CADASIL mutation was conducted.
- MRI scans were evaluated for lesion load and distribution.
Main Results:
- Eight patients had abnormal MRI scans, seven with the CADASIL mutation.
- Subcortical white matter abnormalities were common, predominantly in frontal and temporal lobes.
- Lesions in deep grey nuclei and brain stem were frequent; corpus callosum involvement was noted.
Conclusions:
- Cranial MRI reveals characteristic patterns in CADASIL patients.
- Identifying these imaging features, even in asymptomatic individuals, can facilitate earlier diagnosis and management.
Abstract:
Cerebral 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. Scans were evaluated for lesion load and pattern of lesion distribution. 19 patients had cranial MRI, of whom 11 had normal MRI scans, were clinically unaffected and tested negative for the CADASIL gene mutation. The remaining eight patients had abnormal cranial MRI scans: seven patients were positive for the CADASIL gene mutation and one (untested) patient was severely clinically affected. Three of the patients who tested positive for the CADASIL gene mutation were clinically unaffected at the time of imaging. 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.