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Neurologic manifestations in 18q- syndrome
G Miller1, P N Mowrey, K D Hopper
1Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
American Journal of Medical Genetics
|September 1, 1990
Summary
A mother and son with 18q- syndrome experienced action tremors and poor brain myelination. This suggests a potential link between the myelin basic protein gene and neurological deficits in 18q22.3 deletions.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- 18q- syndrome is a chromosomal disorder associated with various developmental and neurological abnormalities.
- Deletions in the 18q22.3 region are uncommon and their specific phenotypic consequences require further elucidation.
Observation:
- A familial case of 18q22.3 deletion in a mother and son presenting with typical 18q- syndrome features.
- Both individuals exhibited action tremor from childhood, with the mother later developing chorea and dysmetria.
Findings:
- Brain MRI revealed poor myelination in central white matter tracts, contrasting with relatively normal myelination of the corpus callosum.
- The observed neurological symptoms and myelination abnormalities are hypothesized to stem from impaired expression of the myelin basic protein gene.
Implications:
- This study highlights a potential genotype-phenotype correlation for 18q22.3 deletions, specifically linking it to myelination defects and movement disorders.
- Understanding the role of the myelin basic protein gene in this context may inform future therapeutic strategies for 18q- syndrome.
- Further research is warranted to confirm the role of the myelin basic protein gene and explore other potential contributing factors.