Literaturnachweis - Detailanzeige
| Autor/inn/en | Brashear, Allison; Mink, Jonathan W.; Hill, Deborah F.; Boggs, Niki; McCall, W. Vaughn; Stacy, Mark A.; Snively, Beverly; Light, Laney S.; Sweadner, Kathleen J.; Ozelius, Laurie J.; Morrison, Leslie |
|---|---|
| Titel | "ATP1A3" Mutations in Infants: A New Rapid-Onset Dystonia-Parkinsonism Phenotype Characterized by Motor Delay and Ataxia |
| Quelle | In: Developmental Medicine & Child Neurology, 54 (2012) 11, S.1065-1067 (3 Seiten)
PDF als Volltext |
| Sprache | englisch |
| Dokumenttyp | gedruckt; online; Zeitschriftenaufsatz |
| ISSN | 0012-1622 |
| DOI | 10.1111/j.1469-8749.2012.04421.x |
| Schlagwörter | Athletes; Sports Medicine; Motor Development; Seizures; Infants; Evaluation Methods; Case Studies; Children; Data Analysis; Child Development; Age Differences; Speech Communication; Disabilities |
| 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. (Contains 1 table.) (As Provided). |
| Anmerkungen | Wiley-Blackwell. 350 Main Street, Malden, MA 02148. Tel: 800-835-6770; Tel: 781-388-8598; Fax: 781-388-8232; e-mail: cs-journals@wiley.com; Web site: http://www.wiley.com/WileyCDA/ |
| Erfasst von | ERIC (Education Resources Information Center), Washington, DC |
| Update | 2017/4/10 |
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