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COL4A1 mutation in an Indian child presenting as 'Cerebral Palsy' mimic
Siddharth M Shah1, Drushi D Patel2
1Consultant Paediatric Neurologist, Royal Institute of Child Neurosciences, Ahmedabad, Gujarat, India.
Insights
A pathogenic mutation in the COL4A1 gene caused severe neurological and ocular issues in an 11-year-old girl. This highlights the challenges in diagnosing genetic conditions that mimic cerebral palsy.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- The COL4A1 gene is crucial for vascular basement membrane integrity.
- Pathogenic mutations in COL4A1 are linked to diverse clinical manifestations.
- COL4A1 is primarily expressed in the brain, eyes, and kidneys.
Observation:
- An 11-year-old girl presented with right hemiparesis, congenital cataracts, and epilepsy.
- Brain MRI revealed findings consistent with a neurological disorder.
- Genetic testing identified a pathogenic COL4A1 mutation.
Findings:
- The patient's clinical presentation included hemiparesis, cataracts, and epilepsy.
- The identified COL4A1 mutation explains the observed multi-systemic phenotype.
- The constellation of symptoms mimicked non-genetic causes of cerebral palsy.
Implications:
- This case underscores the importance of considering genetic etiologies for complex neurological presentations.
- Early genetic diagnosis of COL4A1 mutations can guide management and genetic counseling.
- Recognizing COL4A1-related disorders is crucial for differentiating from conditions like cerebral palsy.
Abstract:
The COL4A1 gene (COL4A1) plays an important role in vascular basement membrane function and pathogenic mutations have been reported in mice and humans. The gene is expressed mainly in the human brain, eyes and kidneys. Pathogenic mutations result in a vast array of manifestations that can present throughout life including the foetal period. We present a case of an 11-year-old girl with right hemiparesis, congenital cataracts, epilepsy and magnetic resonance imaging (MRI) brain findings with a pathogenic COL4A1 mutation. Many of her clinical features are similar to those of a non-genetic cause of cerebral palsy highlighting the difficulties and delays in making this genetic diagnosis.
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