A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10051014.
- Also identified by PMC identifier 1734300.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.
Medical subject headings
- Blindness
- Centromere
- Intellectual Disability
- Muscle Spasticity
- Myelin Sheath
- Neurodegenerative Diseases
- Seizures
- X Chromosome