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Published on: May 18, 2010
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[Progressive cavitating leukoencephalopathy: four cases and literatures review]
1Department of Neurology, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
|April 27, 2017
Summary
Progressive cavitating leukoencephalopathy (PCL) is linked to novel mutations in NDUFV1 and NDUFS1 genes. Early genetic screening for these genes is crucial for diagnosing PCL in children with characteristic clinical and imaging findings.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Progressive cavitating leukoencephalopathy (PCL) is a rare neurological disorder.
- Understanding its genetic basis and clinical manifestations is essential for diagnosis and management.
- Previous studies have identified associations with mitochondrial complex I genes.

