Bruno M K, Lee H-Y, Auburger G W J, Friedman A, Nielsen J E, Lang A E, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu Y-H, Ptácek L
Department of Neurology, University of California, San Francisco, CA 94158, USA.
Neurology. 2007 May 22;68(21):1782-9. doi: 10.1212/01.wnl.0000262029.91552.e0.
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations in the MR-1 gene causing familial PNKD.
We reviewed the clinical features of 14 kindreds with familial dyskinesia that was not clearly induced by movement or during sleep. Of these 14 kindreds, 8 had MR-1 mutations and 6 did not.
Patients with PNKD with MR-1 mutations had their attack onset in youth (infancy and early childhood). Typical attacks consisted of a mixture of chorea and dystonia in the limbs, face, and trunk, and typical attack duration lasted from 10 minutes to 1 hour. Caffeine, alcohol, and emotional stress were prominent precipitants. Attacks had a favorable response to benzodiazepines, such as clonazepam and diazepam. Attacks in families without MR-1 mutations were more variable in their age at onset, precipitants, clinical features, and response to medications. Several were induced by persistent exercise.
Paroxysmal nonkinesigenic dyskinesia (PNKD) should be strictly defined based on age at onset and ability to precipitate attacks with caffeine and alcohol. Patients with this clinical presentation (which is similar to the phenotype initially reported by Mount and Reback) are likely to harbor myofibrillogenesis regulator 1 (MR-1) gene mutations. Other "PNKD-like" families exist, but atypical features suggests that these subjects are clinically distinct from PNKD and do not have MR-1 mutations. Some may represent paroxysmal exertional dyskinesia.
发作性非运动诱发性运动障碍（PNKD）是一种罕见的疾病，其特征为发作性运动增多性发作。我们最近发现了MR-1基因突变可导致家族性PNKD。
我们回顾了14个家族性运动障碍家族的临床特征，这些家族性运动障碍并非由运动或睡眠明确诱发。在这14个家族中，8个有MR-1基因突变，6个没有。
携带MR-1基因突变的PNKD患者发病于青少年期（婴儿期和幼儿期）。典型发作表现为肢体、面部和躯干的舞蹈样动作和肌张力障碍混合存在，典型发作持续时间为10分钟至1小时。咖啡因、酒精和情绪应激是显著的诱发因素。发作对苯二氮䓬类药物，如氯硝西泮和地西泮，反应良好。没有MR-1基因突变的家族中的发作在发病年龄、诱发因素、临床特征和药物反应方面更具变异性。有几例是由持续运动诱发的。
发作性非运动诱发性运动障碍（PNKD）应根据发病年龄以及咖啡因和酒精诱发发作的能力进行严格定义。具有这种临床表现（类似于Mount和Reback最初报道的表型）的患者可能携带肌原纤维生成调节因子1（MR-1）基因突变。其他“PNKD样”家族存在，但非典型特征表明这些患者在临床上与PNKD不同，且没有MR-1基因突变。其中一些可能代表发作性运动诱发性运动障碍。
