Collagen 4 (COL4) mutation: neurological features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Collagen 4 (COL4) mutation: neurological features. The onset may be antenatal or shortly after birth. Fully referenced neurology checklist.
Onset features
- The onset may be antenatal or shortly after birth
- It may be delayed to later ages
- It may remain asymptomatic
Developmental features
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Seizures
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Vascular features
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Other neurological features
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Differential diagnosis
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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.
- Boyce D, McGee S, Shank L, Pathak S, Gould D. Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry. Epilepsy Behav 2021; 125:108365.
- Gould DB, Phalan FC, Breedveld GJ, et al. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 2005; 308:1167-1171.
