Abstract | BACKGROUND:
Alternating hemiplegia of childhood is a very rare and serious neurodevelopmental syndrome; its genetic basis has recently been established. Its characteristic features include typically-unprovoked episodes of hemiplegia and other transient or more persistent neurological abnormalities. METHODS: RESULTS: One person with alternating hemiplegia tested during the onset of a hemiplegic attack showed progressively diminishing motor cortex excitability until no response could be evoked; a second person tested during a prolonged bilateral hemiplegic attack showed unusually low excitability. Three people tested between attacks showed asymptomatic variation in cortical excitability, not seen in controls. Paired pulse paradigms, which probe intracortical inhibitory and excitatory circuits, gave results similar to controls. CONCLUSIONS: We report symptomatic and asymptomatic fluctuations in motor cortex excitability in people with alternating hemiplegia of childhood, not seen in controls. We propose that such fluctuations underlie hemiplegic attacks, and speculate that the asymptomatic fluctuation we detected may be useful as a biomarker for disease activity.
|
Authors | William M Stern, Mahalekshmi Desikan, Damon Hoad, Fatima Jaffer, Gionata Strigaro, Josemir W Sander, John C Rothwell, Sanjay M Sisodiya |
Journal | PloS one
(PLoS One)
Vol. 11
Issue 3
Pg. e0151667
( 2016)
ISSN: 1932-6203 [Electronic] United States |
PMID | 26999520
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Topics |
- Adolescent
- Adult
- Case-Control Studies
- Evoked Potentials, Motor
(physiology)
- Female
- Hemiplegia
(physiopathology)
- Humans
- Male
- Motor Cortex
(physiology)
- Mutation
(genetics)
- Transcranial Magnetic Stimulation
- Young Adult
|