Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3 |
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| Affiliation: | 1. University of Florida, Department of Neurology, Norman Fixel Institute for Neurological Diseases, 3009 SW Williston Rd, Gainesville, FL, USA;1. Department of Neurology, Karolinska University Hospital, Stockholm, Sweden;2. Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden;3. Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland;4. Department of Neurology, Vaasa Central Hospital, Vaasa, Finland;5. Blood Transfusion Service Zürich, Swiss Red Cross (SRC), Zurich-Schlieren, Switzerland;6. Department of Neurophysiology, Karolinska University Hospital, Stockholm, Sweden;7. Department of Otorhinolaryngology, Karolinska University Hospital, Stockholm, Sweden;8. Department of Nuclear Medicine, Karolinska University Hospital, Stockholm, Sweden;9. Department of Neurology, University Hospital Zurich, Switzerland;10. Department of Neuropathology, Institute of Pathology, University Hospital in Basel, Switzerland |
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| Abstract: | ATP1A3-related dystonia is a disorder with high heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 gene. Here, 2 atypical cases carring 2 de-novo ATP1A3 variants with RDP-CAPOS overlapping phenotype or continuous hemi-dystonia are described. |
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| Keywords: | Dystonia Phenotypes |
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