ArticlePediatric radiology2023
Brain imaging findings in CLCN2-related leukoencephalopathy.
Article in Pediatric radiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- CLCN2-Related Leukoencephalopathy Presenting as Isolated Paroxysmal Non-Kinesigenic Dyskinesia: Clinical, Imaging, and Genetic Correlations.Journal of movement disorders · 2026Article
- Identification of a novelFrontiers in genetics · 2026Article
- Glial Ion Channels in Myelin Pathophysiology: Insights from Leukodystrophies.Life (Basel, Switzerland) · 2025Review
- Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its precise pathophysiology is uncertain, clinical manifestations are nonspecific and little is known in terms of prognosis. Neuroimaging plays a fundamental role in the identification of CLCN2-related leukoencephalopathy, which has a typical magnetic resonance imaging pattern that, when recognized, should promote proper genetic study for diagnostic confirmation. We report a paediatric clinical case of CLCN2-related leukoencephalopathy with genetically verified c.1709G > A p(Trp570*) mutation, highlighting typical neuroimaging findings and the importance of imaging in the diagnostic approach.
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