Large Sample Study on Paroxysmal Kinesigenic Dyskinesia: Genotype-Phenotype Analysis and Diagnosis Recommendations
Objective: By analyzing nationwide large samples provided by China Paroxysmal Kinesigenic Dyskinesia Association(CPKDA), this study is attempted to summarize the clinical phenotypes and genetic features…A Swedish family with Paroxysmal Kinesigenic Dyskinesia due to p.Arg217Profs*8 truncation in the proline-rich transmembrane protein 2 gene
Objective: To describe the first Swedish pedigree that fits both clinical criteria for PKD and genetic confirmation for the p.Arg217Profs*8 in the PRRT2 gene. Background: Paroxysmal Kinesigenic…Medically refractory paroxysmal kinesigenic dyskinesia in a 7 year old with a novel PRRT2 mutation
Objective: To describe an atypical case of paroxysmal kinesigenic dyskinesia (PKD) due to a novel PRRT2 mutation. Background: PRRT2 gene mutations have been reported in a…Impulse control disorders in Parkinson’s disease – Determinants and effect of DBS
Objective: To assess the frequency and pattern of impulse control disorders (ICDs) and ICD-related behaviours (ICD-RBs) in Indian patients with idiopathic Parkinson's disease and to…