29 – Paroxysmal Dyskinesia

作者: Laurent Vercueil , Anne de Saint Martin , Edouard Hirsch

DOI: 10.1016/B978-012088592-3/50031-1

关键词:

摘要: Paroxysmal dyskinesias comprise a heterogenous group of disorders that share the recurrence sudden abnormal involuntary movements out normal background. The may be choreic, ballistic, or dystonic but are more frequently combination these, thus giving strong support to use term dyskinesia account for this complexity. episodes last few seconds several hours and purely motor-oriented, without alteration in consciousness. Recovery from attacks is usually rapid complete. This chapter deals separately with each subtype paroxysmal dyskinesia, because etiologies presumed pathophysiology appear substantially different. Despite advances, important details remain unknown. Progress gene identification understanding link between mutated product probable transient ion channel dysfunction becoming key targets investigation. However, it already possible formulate various hypotheses can tested promote general perspective disorder.

参考文章(31)
Gameil T Fouad, Serenella Servidei, Simon Durcan, E. Bertini, Louis J Ptácek, A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. American Journal of Human Genetics. ,vol. 59, pp. 135- 139 ,(1996)
T. Lombroso Cesare, Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? Italian Journal of Neurological Sciences. ,vol. 16, pp. 271- 277 ,(1995) , 10.1007/BF02249102
L. Girbach, P. Hedera, J. Mathay, S. Rainier, J. Wilkowski, R. Albin, J. K. Fink, S. M. Jones, A. Kume, B. Otterud, T. Varvil, M. Leppert, Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q American Journal of Human Genetics. ,vol. 59, pp. 140- 145 ,(1996)
Meltem Demirkiran, Joseph Jankovic, Paroxysmal dyskinesias: Clinical features and classification Annals of Neurology. ,vol. 38, pp. 571- 579 ,(1995) , 10.1002/ANA.410380405
MK Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, DR Lynch, KD Mathews, KJ Swoboda, J Harris, B-W Soong, Tetsuo Ashizawa, J Jankovic, D Renner, Y-H Fu, LJ Ptacek, None, Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia New diagnostic criteria Neurology. ,vol. 63, pp. 2280- 2287 ,(2004) , 10.1212/01.WNL.0000147298.05983.50
Jaishri Blakeley, Joseph Jankovic, None, Secondary paroxysmal dyskinesias. Movement Disorders. ,vol. 17, pp. 726- 734 ,(2002) , 10.1002/MDS.10178
Pierre Szepetowski, Jacques Rochette, Patrick Berquin, Charles Piussan, G. Mark Lathrop, Anthony P. Monaco, Familial infantile convulsions and paroxysmal choreoathetosis : a new neurological syndrome linked to the pericentromeric region of human chromosome 16 American Journal of Human Genetics. ,vol. 61, pp. 889- 898 ,(1997) , 10.1086/514877
Wei Du, Jocelyn F Bautista, Huanghe Yang, Ana Diez-Sampedro, Sun-Ah You, Lejin Wang, Prakash Kotagal, Hans O Lüders, Jingyi Shi, Jianmin Cui, George B Richerson, Qing K Wang, Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder Nature Genetics. ,vol. 37, pp. 733- 738 ,(2005) , 10.1038/NG1585
M del Carmen Garcı́a, S Intruvini, S Vazquez, F Beserra, A.L Rabinowicz, Ictal SPECT in paroxysmal non-kinesigenic dyskinesia. Case report and review of the literature. Parkinsonism & Related Disorders. ,vol. 6, pp. 119- 121 ,(2000) , 10.1016/S1353-8020(99)00057-7
K. Brockmann, A. M. Dumitrescu, Th. T. Best, F. Hanefeld, S. Refetoff, X–linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene Journal of Neurology. ,vol. 252, pp. 663- 666 ,(2005) , 10.1007/S00415-005-0713-3