Abstract
BACKGROUND: Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are two separate movement disorders with different dominant mutations in the same sodium-potassium transporter ATPase subunit gene, ATP1A3. PATIENT: We present a child with topiramate-responsive alternating hemiplegia of childhood who was tested for an ATP1A3 gene mutation. RESULTS: Gene sequencing revealed an identical ATP1A3 mutation as in three typical adult-onset rapid-onset dystonia parkinsonism cases but never previously described in an alternating hemiplegia of childhood case. CONCLUSION: The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism.
Original language | English (US) |
---|---|
Pages (from-to) | 850-853 |
Number of pages | 4 |
Journal | Pediatric Neurology |
Volume | 51 |
Issue number | 6 |
DOIs | |
State | Published - Dec 1 2014 |
Keywords
- ATP1A3
- Alternating hemiplegia of childhood
- Genetics
- Movement disorder
- Rapid-onset dystonia parkinsonism
- Topiramate
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Developmental Neuroscience
- Clinical Neurology