Paroxysmal Kinesigenic Dyskinesia
<p><strong>Background</strong>: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong&...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Ubiquity Press
2017-12-01
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| Series: | Tremor and Other Hyperkinetic Movements |
| Online Access: | https://tremorjournal.org/index.php/tremor/article/view/529 |
| _version_ | 1818320995569631232 |
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| author | Martin Paucar Helena Malmgren Per Svenningsson |
| author_facet | Martin Paucar Helena Malmgren Per Svenningsson |
| author_sort | Martin Paucar |
| collection | DOAJ |
| description | <p><strong>Background</strong>: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong>: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette’s syndrome.</p><p><strong>Educational Value</strong>: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.</p> |
| first_indexed | 2024-12-13T10:33:52Z |
| format | Article |
| id | doaj.art-7f98bd795db146ebb7659f28fd5d622e |
| institution | Directory Open Access Journal |
| issn | 2160-8288 |
| language | English |
| last_indexed | 2024-12-13T10:33:52Z |
| publishDate | 2017-12-01 |
| publisher | Ubiquity Press |
| record_format | Article |
| series | Tremor and Other Hyperkinetic Movements |
| spelling | doaj.art-7f98bd795db146ebb7659f28fd5d622e2022-12-21T23:50:47ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882017-12-01710.7916/D8R79N2F359Paroxysmal Kinesigenic DyskinesiaMartin Paucar0Helena Malmgren1Per Svenningsson2Department of Neurology, Karolinska University Hospital Huddinge and Department of Clinical Neuroscience, Karolinska Institutet, StockholmDepartment of Clinical Genetics, Karolinska University Hospital Solna and Department of Molecular Medicine and Surgery, Karolinska Institutet, StockholmDepartment of Neurology, Karolinska University Hospital Huddinge and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm<p><strong>Background</strong>: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong>: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette’s syndrome.</p><p><strong>Educational Value</strong>: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.</p>https://tremorjournal.org/index.php/tremor/article/view/529 |
| spellingShingle | Martin Paucar Helena Malmgren Per Svenningsson Paroxysmal Kinesigenic Dyskinesia Tremor and Other Hyperkinetic Movements |
| title | Paroxysmal Kinesigenic Dyskinesia |
| title_full | Paroxysmal Kinesigenic Dyskinesia |
| title_fullStr | Paroxysmal Kinesigenic Dyskinesia |
| title_full_unstemmed | Paroxysmal Kinesigenic Dyskinesia |
| title_short | Paroxysmal Kinesigenic Dyskinesia |
| title_sort | paroxysmal kinesigenic dyskinesia |
| url | https://tremorjournal.org/index.php/tremor/article/view/529 |
| work_keys_str_mv | AT martinpaucar paroxysmalkinesigenicdyskinesia AT helenamalmgren paroxysmalkinesigenicdyskinesia AT persvenningsson paroxysmalkinesigenicdyskinesia |