Correlations between genetics and cortical dysfunction of paroxysmal kinesgenic dyskinesia
Objective: To delineate the cortical function of paroxysmal kinesigenic dyskinesia (PKD) and correlate with the genotypes of patients. Background: PKD is characterized by episodic involuntary movements…Clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) studied with whole exome sequencing (WES)
Objective: We aim to investigate the clinical and genetic features of PKD in a large cohort of patients in with WES. Background: PKD is a…PRRT2 mutations are associated with a wide intrafamilial ad interfamilial phenotypic variability
Objective: To describe the different clinical syndromes associated with PRRT2 mutations in two different families Background: Mutations in the Proline-Rich Transmembrane Protein 2 (PRRT2) gene…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.