Klein C, Vieregge P
Klinik für Neurologie,f1p4izinischen Universität zu Lübeck.
Nervenarzt. 1998 Aug;69(8):647-59. doi: 10.1007/s001150050324.
Non-epileptic paroxysmal dyskinesias present with different forms of extrapyramidal hyperkinesias (dystonia, chorea, athetosis, ballism) in variable combinations and with cerebellar signs, respectively. They may be classified as: 1. paroxysmal dystonias/choreoathetoses (paroxysmal dystonic choreoathetosis = PDC), paroxysmal kinesigenic choreoathetosis = PKC, intermediate form) and 2. paroxysmal ataxias (PA) (PA with myokymia and neuromyotonia, azetazolamide-responsive PA). Nocturnal paroxysmal dystonia is now regarded as one form of nocturnal frontal lobe epilepsy. Research in molecular genetics has substantially contributed to the etiologic understanding of paroxysmal dyskinesias: In different families linkage has been successfully completed for PDC (chromosome 2q) and PA (chromosomes 12p, 19p). PA are now identified as channelopathies with mutations in the potassium channel (PA with myokymia and neuromyotonia) and the calcium channel gene (azetazolamide-responsive PA).
非癫痫性阵发性运动障碍分别以不同形式的锥体外系运动亢进（肌张力障碍、舞蹈症、手足徐动症、投掷症）的不同组合以及伴有小脑体征的形式出现。它们可分为：1. 阵发性肌张力障碍/舞蹈手足徐动症（阵发性肌张力障碍性舞蹈手足徐动症 = PDC）、阵发性运动诱发性舞蹈手足徐动症 = PKC，中间型）和2. 阵发性共济失调（PA）（伴有肌束震颤和神经性肌强直的PA、乙酰唑胺反应性PA）。夜间阵发性肌张力障碍现在被认为是夜间额叶癫痫的一种形式。分子遗传学研究极大地促进了对阵发性运动障碍病因的理解：在不同家族中，已成功完成了PDC（2号染色体）和PA（12号染色体短臂、19号染色体短臂）的连锁研究。现在已确定PA是由钾通道（伴有肌束震颤和神经性肌强直的PA）和钙通道基因（乙酰唑胺反应性PA）突变引起的通道病。
