Cortico-motor neurone conduction in dopa responsive dystonia
β Scribed by P. Brown; T. C. Britton
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 128 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
To the Editor:
Attention has recently been drawn to difficulties in distinguishing dopa-responsive dystonia from disorders with pyramidal deficits. Increased muscle tone, hyperreflexia, and dystonic extension of the big toe on plantar stimulation commonly occur in dopa-responsive dystonia and may contribute to diagnostic difficulties (1,2).
We recently observed a 24-year-old woman with doparesponsive dystonia. Her family and birth history were unremarkable. She walked at the age of 1 year. At 18 months, equinovarus deformities of both feet developed,
π SIMILAR VOLUMES
Unstable GTP cyclohydrolase I (GCH) mutations in dopa-responsive dystonia (DRD) can exert a dominant-negative effect in the HeLa cell model, but in a batch of cells this effect could not be shown. Through differential display, we found a higher Hsc70 expression in the non-dominant-negative cells. We