ATP1A3 mutations in infants: A new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

Allison Brashear, Jonathan W. Mink, Deborah F. Hill, Niki Boggs, William Vaughn McCall, Mark A. Stacy, Beverly Snively, Laney S. Light, Kathleen J. Sweadner, Laurie J. Ozelius, Leslie Morrison

54 Scopus citations


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 9months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14months and pre-existing motor delay. At age 4years, 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.

Original languageEnglish (US)
Pages (from-to)1065-1067
Number of pages3
JournalDevelopmental Medicine and Child Neurology
Issue number11
Publication statusPublished - Nov 1 2012
Externally publishedYes


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this