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Congenital Mirror Movements Associated With Brain Malformations
Andreea Nissenkorn1,2,3, Keren Yosovich1,4, Zvi Leibovitz5
1Metabolic Neurogenetic Service, 58883Wolfson Medical Center, Holon, Israel.
Insights
Congenital mirror movements, often idiopathic, are linked to brain malformations caused by genetic mutations affecting axonal guidance. This study details genetic and radiologic findings in affected individuals.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Congenital mirror movements are involuntary, mirrored movements on one side of the body, typically emerging in early childhood.
- While often idiopathic, these movements have been associated with various congenital brain malformations.
Observation:
- This study investigated five families comprising nine individuals with congenital mirror movements.
- Clinical, genetic, and radiologic data were collected to understand the underlying causes.
Findings:
- Specific mutations in genes including DCC, TUBB3, TUBB, TUBA1A, and POMGNT1 were identified in individuals with mirror movements.
- Associated brain malformations included corpus callosum abnormalities, dysgyria, vermis malformations, asymmetric ventricles, and hydrocephalus.
Implications:
- These genetic mutations disrupt normal axonal guidance, leading to congenital mirror movements and observable brain malformations.
- Understanding these genetic underpinnings can aid in diagnosing and potentially managing this neurological condition.
Background:
Congenital mirror movements are involuntary movements of a side of the body imitating intentional movements on the opposite side, appearing in early childhood and persisting beyond 7 years of age. Congenital mirror movements are usually idiopathic but have been reported in association with various brain malformations.
Methods:
We describe clinical, genetic, and radiologic features in 9 individuals from 5 families manifesting congenital mirror movements.
Results:
The brain malformations associated with congenital mirror movements were: dysplastic corpus callosum in father and daughter with a heterozygous p.Met1* mutation in DCC; hypoplastic corpus callosum, dysgyria, and malformed vermis in a mother and son with a heterozygous p.Thr312Met mutation in TUBB3; dysplastic corpus callosum, dysgyria, abnormal vermis, and asymmetric ventricles in a father and 2 daughters with a heterozygous p.Arg121Trp mutation in TUBB; hypoplastic corpus callosum, dysgyria, malformed basal ganglia and abnormal vermis in a patient with a heterozygous p.Glu155Asp mutation in TUBA1A; hydrocephalus, hypoplastic corpus callosum, polymicrogyria, and cerebellar cysts in a patient with a homozygous p.Pro312Leu mutation in POMGNT1.
Conclusion:
DCC, TUBB3, TUBB, TUBA1A, POMGNT1 cause abnormal axonal guidance via different mechanisms and result in congenital mirror movements associated with brain malformations.
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