An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures
نویسندگان
چکیده
منابع مشابه
Focal paroxysmal kinesigenic choreoathetosis.
Three cases of paroxysmal kinesigenic choreoathetosis are described in whom unilateral attacks were focally induced, together with a case in whom bilateral attacks only occured. Treatment with phenytoin was effective in all cases. The aspects of the literature relating to focal and generalised attacks in paroxysmal kinesigenic choreoathetosis are reviewed.
متن کاملClinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation
BACKGROUND AND PURPOSE Given the diverse phenotypes including combined non-dyskinetic symptoms in patients harboring mutations of the gene encoding proline-rich transmembrane protein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKD patients with PRRT2 mutations. ...
متن کاملParoxysmal kinesigenic choreoathetosis in hyperthyroidism.
Paroxysmal kinesigenic choreoathetosis is an unusual movement disorder often triggered by attempts to use the limbs, and has sometimes been associated with diffuse or focal brain injury. We report its occurrence in hyperthyroidism, with which choreoathetosis has rarely been described in the past without known cause. Choreoathetosis has also occurred with other metabolic and toxic disorders, and...
متن کاملProline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia
1. Del Brutto OH, Engel J Jr., Eliashiv DS, García HH. Update on cysticercosis epileptogenesis: The role of the hippocampus. Curr Neurol Neurosci Rep 2016;16:1. 2. Bianchin MM, Velasco TR, Wichert‐Ana L, Alexandre V Jr., Araujo D Jr., dos Santos AC, et al. Characteristics of mesial temporal lobe epilepsy associated with hippocampal sclerosis plus neurocysticercosis. Epilepsy Res 2014;108:1889‐9...
متن کاملfamilial paroxysmal kinesigenic choreoathetosis
a 14-year old boy was presented with q rare form ofmovement-induced drop attacks, which was also present in his father. 17jis case was, therefore, labeled as familial paroxysmal kinesigenic choreoathetosis.
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2019
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.cn-001228