ATP1A3 mutations in infants: a new rapid‐onset dystonia–Parkinsonism phenotype characterized by motor delay and ataxia |
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| Authors: | ALLISON BRASHEAR JONATHAN W MINK DEBORAH F HILL NIKI BOGGS W VAUGHN MCCALL MARK A STACY BEVERLY SNIVELY LANEY S LIGHT KATHLEEN J SWEADNER LAURIE J OZELIUS LESLIE MORRISON |
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| Affiliation: | 1. Department of Neurology, Wake Forest School of Medicine, Winston‐Salem, NC;2. Department of Neurology, University of Rochester School of Medicine, Rochester, NY;3. Department of Psychiatry, Wake Forest School of Medicine, Winston‐Salem, NC;4. Departments of Neurology, Duke University School of Medicine, Durham, NC;5. Division of Public Health Sciences, Department of Biostatistical Sciences, Wake Forest School of Medicine, Winston‐Salem, NC;6. Department of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, MA;7. Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, New York, NY;8. Department of Neurology, University of New Mexico, Albuquerque, NM, USA. |
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| Abstract: | ![]()
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. |
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