Stimulus-induced paroxysmal cranial dyskinesia and Nail Patella Syndrome in a multigenerational family with a novel mutation in the LMX1B gene
Objective: To perform a genetic linkage study with the aim to identify the cause of dyskinesia in a large family with affected members in several…Paroxysmal kinesigenic dyskinesia successfully treated with lamotrigine –description of 2 cases
Objective: To present 2 cases of our patients with paroxysmal kinesigenic dyskinesias (PKD) , who had intolerance or ineffectiveness of carbamazepine (CBZ), and presented good…The use of a clinical “exercise -immobility test” in a patient with paroxysmal hypnogenic dyskinesia
Objective: We present a patient of PHD that occurred also after immobility without sleep and its severity increases in days of more exertion. Furthermore, we…Development of a Paroxysmal Movement Disorder Diary for Patients with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To perform qualitative research to develop and establish content validity of a new clinical outcome assessment (COA) instrument for paroxysmal movement disorders in Glut1…Assessments of Movement Disorder Symptoms and Functional Impacts in Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To identify Clinical Outcome Assessments (COAs) appropriate for the evaluation of paroxysmal movement disorder symptoms and functional impact in Glut1 DS. Background: Glut1 DS…Movement Disorders secondary to Spinal Cord Demyelination: an Evolving Spectrum
Objective: To describe the spectrum of movement disorders that result from spinal cord demyelination. Background: Spinal movement disorders (SMDs) secondary to cord demyelination are not…Phenotypic insights into ADCY5-associated disease
Objective: We provide detailed clinical data on seven patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.