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Intracranial arterial disease in CADASIL patients
1Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can cause large artery disease infarctions in the brain. These lesions, found in intracranial arteries, may be a key manifestation of CADASIL, particularly in East Asian populations.
Area of Science:
- Neurology
- Vascular Neurology
- Genetics
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) primarily affects small cerebral arteries.
- The role of large cerebral artery disease in CADASIL is not well understood.
- This study investigates the prevalence and characteristics of large artery disease-related infarctions in CADASIL patients.
Purpose of the Study:
- To characterize infarctions associated with cerebral large artery disease in patients with CADASIL.
- To determine the location and prevalence of these specific infarction patterns.
Main Methods:
- Retrospective review of 49 symptomatic patients with genetically confirmed CADASIL.
- Identification of infarctions within large cerebral artery territories using MRI and MRA.
- Comparison of patients with and without large artery disease-associated territorial infarction.
Main Results:
- Seven out of 49 CADASIL patients (14.3%) had infarctions associated with large artery disease.
- All identified vascular lesions were located in intracranial arteries.
- No significant differences in vascular risk factors, microbleeds, white matter changes, or mutations were found between groups.
Conclusions:
- Infarction linked to intracranial arterial disease is a potential manifestation of CADASIL.
- Further research is required to understand the pathology and geographic prevalence of this finding.
- Symptomatic intracranial large artery disease appears to occur in CADASIL patients, especially in East Asia.
Background:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by the involvement of cerebral small arteries. Although cerebral large artery disease has been reported in CADASIL patients, the prevalence and location of relevant cerebral arterial disease have not been elucidated. In this study, we aim to characterize infarctions associated with cerebral large artery disease in CADASIL patients.
Methods:
We retrospectively reviewed 49 consecutive symptomatic patients with genetically confirmed CADASIL, who visited the Asan Medical Center between December 2002 and December 2013. Infarctions located within the territory of a relevant, large cerebral artery were identified with the use of magnetic resonance imaging and magnetic resonance angiography. Patients with or without territorial patterns associated with large artery disease were compared.
Results:
Out of a total of 49 patients, 23 patients had cerebral infarction. Among these, seven had infarction associated with cerebral large artery disease. The corresponding vascular lesions were located in the intracranial arteries in all seven patients. There were no differences between patients with or without territorial infarction in terms of vascular risk factors, microbleeds, white matter changes, or mutations involving cysteine. A literature review illustrates that symptomatic intracranial diseases are present in CADASIL patients at least in East Asia.
Conclusion:
Infarction in association with intracranial arterial disease may be a manifestation of CADASIL. Further studies are needed to elucidate the pathologic characteristics and to see whether this occurs exclusively in East Asia.
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