Search

Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder in autosomal dominant inheritance. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families. The present study characterized the clinical and genetic findings of a Taiwanese PNKD family. The clinical features of our five patients in successive three generations included onset age less than 10 years, attack duration between 3 min and 4h, and a variety of aura symptoms. The attacks were provoked not by sudden action but by emotional stress, caffeine, fatigue, heavy exercise and sleep deprivation. Sleep could abolish or diminish the attack and the attacks responded well to clonazepam. Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. Comparing our patients with previously reported 18 families with PNKD/MR-1 mutations, the majority of the patients exhibited quite similar manifestations in attack patterns and precipitating factors. The recurrent conservative mutations in different ethnicities indicate importance in the pathogenesis of PNKD., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Background: Hemiballism-hemichorea, a well documented movement disorder, is not uncommon in the clinic. However, systematic analysis of the condition in ethnic Chinese on clinical grounds, is still inexplicably lacking., Methods: This study focused on 23 Chinese patients with hemiballism-hemichorea in Taiwan. The general data, clinical pictures, blood biochemistries, past histories of systemic disease, neuroradiological imaging, methods of treatment, and prognoses of these patients were analyzed retrospectively., Results: The study revealed that ischemic stroke (44%) is the leading cause of this movement disorder, and the metabolic disorder (22%) is also one of the common etiologies of dyskinesia in Chinese patients. In addition to those patients whose condition was caused by non-ketotic hyperglycemia, blood sugar had also obviously increased in patients where the cause was infarction. Pathological lesions contributed to hyperkinesia were found not only in the contralateral basal ganglion but also in the thalamus and subcortical areas. The characteristics of those patients where the cause was infarction and non-ketotic hyperglycemia were: age at onset greater than 60 years, and predominantly in women. Etiologies contributing to this movement disorder in younger patients differ from those in the older. Prognosis of the movement disorder in this study was favorable., Conclusions: Hemiballism-hemichorea is predisposed to occur in older Chinese women, and metabolic disorder is an important etiology of the movement disorder. When the dyskinesia is encountered in the clinic, the metabolic disorders must be first ruled out as the problem may be rapidly resolved by achieving metabolic control.