ATP1A3 mutations in infants: a new rapid-onset dystonia–Parkinsonism phenotype characterized by motor delay and ataxia
Version of Record online: 28 AUG 2012
© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press
Developmental Medicine & Child Neurology
Volume 54, Issue 11, pages 1065–1067, November 2012
How to Cite
BRASHEAR, A., MINK, J. W., HILL, D. F., BOGGS, N., MCCALL, W. V., STACY, M. A., SNIVELY, B., LIGHT, L. S., SWEADNER, K. J., OZELIUS, L. J. and MORRISON, L. (2012), ATP1A3 mutations in infants: a new rapid-onset dystonia–Parkinsonism phenotype characterized by motor delay and ataxia. Developmental Medicine & Child Neurology, 54: 1065–1067. doi: 10.1111/j.1469-8749.2012.04421.x
- Issue online: 5 OCT 2012
- Version of Record online: 28 AUG 2012
- PUBLICATION DATA Accepted for publication 30th June 2012. Published online.
We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia–Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9 months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14 months and pre-existing motor delay. At age 4 years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties.