Clinical analysis of nine cases of paroxysmal exercise-induced dystonia

Abstract

This study was aimed to analyze the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and extend the understanding of this disease. From August, 2008 to October, 2010, 9 patients were diagnosed with PKD in the Department of Neurology of the First Affiliated Hospital of Zhejiang University, China. The data involving clinical demographic characteristics, somatosensory evoked potentials, results of electromyography, video electroencephalography (EEG), brain magnetic resonance imaging (MRI) and computerized tomography (CT) were collected. All PKD patients exhibited unilateral or bilateral recurrent episodic dyskinetic attacks triggered by sudden voluntary movements. The duration of the attacks ranged from several seconds to one minute. The attack frequency ranged from approximately once in several months to more than 10 times in a day. Patients suffered from no conscious disorders during the attack, and no neurological signs were found during the period between attacks. No abnormal somatosensory evoked potentials were found. Routine EEG, video EEG monitoring or brain imaging showed normal findings. Classical treatment for anti-epilepsy, including carbamazepine and topiramate, was administered to the patients and proved to be effective. It was concluded that PKD is characteristically triggered by sudden voluntary movement; no abnormal electroneurophysiological findings are observed in PKD, and antiepileptic drugs are effective in treating the disorder.

Keywords

paroxysmal kinesigenic dyskinesia / clinical features / therapy / research progress

References

[1] BrunoM.K., HalletttM., Gwinn-hardY.K., et al.. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology, 2004, 63(12): 2280-2287

[2] Wang K, Zhao X, Du Y, et al. Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. Brain Dev, 2012, PMID: 22902309

[3] ZhouJ., LiG., ChenC., et al.. Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: A new subtype?. Epilepsy Res, 2008, 80: 171-179

[4] HederaP., XiaoJ., PuschmannA., et al.. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. BMC Neurol, 2012, 12(1): 93

[5] FragosoY.D., AraujoM.G., BrancoN.L.. Kinesigenic paroxysmal hemidyskinesia as the initial presentation of multiple sclerosis. Med Gen Med, 2006, 8(4): 3

[6] ThomasR.J., BehariM., GaikwardS.B., et al.. An unusual case of paroxysmal kinesigenic dyskinesia. J Clin Neuroscience, 2002, 9(1): 94-97

[7] van VlietR., BreedveldG., de Rijk-vanA.J., et al.. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology, 2012, 79(8): 777-784

[8] DepienneC., BriceA.. Unlocking the genetics of paroxysmal kinesigenic dyskinesia. Brain, 2011, 134: 3431-3434

[9] BhatiaK.P.. Paroxysmal dyskinesias. Mov Disord, 2011, 26(6): 1157-1165

[10] HwangW.J., LuC.S., TsaiJ.J.. Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia. Acta Neurol Scand, 1998, 98: 340-345

[11] LiZ., TurnerR.P., SmithG.. Childhood paroxysmal kinesigenic dyskinesia: Report of seven cases with onset at an early age. Epilepsy Behav, 2005, 6: 435-439

[12] LiX., ChenS., WangY.. Recent advances of genetic research on paroxysmal kinesigenic dyskinesias. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Chinese), 2008, 25(4): 410-413

[13] ChillagK.L., DeroosS.T.. Oxcarbazepine use in paroxysmal kinesigenic dyskinesia: report on four patients. Pediatr Neurol, 2009, 40(4): 295-297

[14] StrzelczykA., BürkK., OertelW.H.. Treatment of paroxysmal dyskinesias. Expert Opin Pharmacother, 2011, 12(1): 63-72

[15] KinastM., ErenbergG., RothnerA.D.. Paroxysmal chreoat hetosis: report of five cases and review of literature. Pediatrics, 1980, 65(1): 74-77

[16] SinghR., MacdonellR.A., SchefferI.E., et al.. Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms. Epileptic Disord, 1999, 1(2): 93-99

[17] MargariL., PresicciA., VenturaP., et al.. Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia. Pediatr Neurol, 2005, 32(4): 229-235

[18] ValenteE.M., SpaceyS.D., WaliG.M., et al.. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain, 2000, 123: 2040-2045

[19] SpaceyS.D., ValenteE.M., WaliG.M., et al.. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord, 2002, 17: 717-725

[20] MirP., HuangY.Z., GillioF., et al.. Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia. Brain, 2005, 128: 291-299

[21] FourcadeG., RoubertieA., DoummarD., et al.. Paroxysmal kinesigenic dyskinesia: a channelopathy? Study of 19 cases. Rev Neurol, 2009, 165(2): 164-169

[22] MrabetK.H., MasmoudiS., MrabetA.. Association of Parry-Romberg syndrome and paroxymal kinesigenic dyskinesia. Rev Neurol, 2009, 165(5): 489-492