Collagen 4 (COL4) mutation: radiological features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Collagen 4 (COL4) mutation: radiological features. Poroncephalic cysts, Extensive prenatal brain destruction. Fully referenced neurology checklist.
Major features
- Poroncephalic cysts
- Extensive prenatal brain destruction
- Cerebral aneurysms
- Cerebral microbleeds: on gradient echo sequences
White matter abnormalities
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Malformations of cortical development (MCD)
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Synonym
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References
- Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease. Stroke 2010; 41:e513-e518.
- Zagaglia S, Selch C, Nisevic JR, et al. Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease. Neurology 2018; 91:e2078-e2088.
- Meuwissen ME, Halley DJ, Smit LS, et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med 2015; 17:843-853.
- Meuwissen MEC, de Vries LS, Verbeek HA, et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydrancephaly. Neurology 2011; 76:844-846.
- Nicita F, Aiello C, Carboni A, Longo D, Bertini E, Travaglini L. Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants. Clin Neurol Neurosurg 2023; 225:107584.
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