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Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy
Published on: January 11, 2016
Familial cerebral palsy associated with normal intelligence
Postgraduate Medical Journal
|September 1, 1986
Insights
This study identifies a rare, inherited form of cerebral palsy passed down through families. The condition presents in infancy, causing severe motor impairments and sometimes intellectual disability or other health issues.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Cerebral palsy (CP) is a group of movement disorders that affect muscle tone and posture.
- Familial forms of CP suggest a genetic basis, but specific genetic causes are often unknown.
- Recessive inheritance patterns are critical to understand for genetic counseling and diagnosis.
Observation:
- Two families presented with infants diagnosed with a recessively transmitted familial cerebral palsy.
- The first family included two sisters with severe spastic diplegia; one also had mild intellectual disability and hypothyroidism.
- The second family had two brothers exhibiting spastic quadriparesis and fifth finger camptodactyly, with normal intelligence.
Findings:
- The described condition is a severe, recessively inherited form of cerebral palsy.
- Clinical manifestations include spastic diplegia and quadriparesis, with variable expressivity.
- Associated symptoms like intellectual disability, hypothyroidism, and camptodactyly were noted in affected individuals.
Implications:
- This research highlights a specific genetic etiology for familial cerebral palsy.
- Understanding this inheritance pattern is crucial for accurate genetic diagnosis and counseling.
- Further research into the specific genetic mutations may lead to targeted therapies for this CP subtype.
Abstract:
We describe two families affected by a recessively transmitted familial cerebral palsy with onset in infancy. Two sisters in the first family have a severe spastic diplegia. The older sister also has mild mental retardation and hypothyroidism whilst the younger sister is of normal intelligence. Two brothers in the second family have a spastic quadriparesis, fifth finger camptodactyly and normal intelligence.
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