Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…Endorsement of self-reported non-motor symptoms is associated with higher self-rated motor experiences of daily living in MDS-UPDRS part 2 in Parkinson’s disease
Objective: To quantify the extent to which self-perceived motor limitations (MDS-UPDRS part 2) relate to self-reported levels of non-motor symptom severity. Background: The MDS-UPDRS part…MDSGene Systematic Review: Genotype-Phenotype Relations for Hereditary Spastic Paraplegia Genes SPAST, ATL1 & REEP1
Objective: To provide a comprehensive systematic review of the genotype-phenotype association in the most common three autosomal dominant genes of hereditary spastic paraplegia (HSP): SPAST,…Bilateral GPi DBS for the treatment of severe generalized genetic dystonia caused by KMT2B mutation (DYT-28)
Objective: . Background: KMT2B-related dystonia (DYT-28) is a complex childhood-onset movement disorder, characterized by a limb onset dystonia progressing to generalized dystonia with cranio-cervical involvement…Evolution of Freezing of Gait in Subthalamic Nucleus Deep Brain Stimulation
Objective: To find out the evolution of freezing of gait (FoG) in Parkinson's disease (PD) patients who underwent subthalamic nucleus deep brain stimulation (STN-DBS). Background:…Deep brain stimulation in two patients with immunosuppressive therapy
Objective: To report two patients with a movement disorder who underwent deep brain stimulation under concomitant immunosuppressive treatment. To report two patients with a movement…Focused ultrasound subthalamotomy in Parkinson’s disease: Lesion topography and improvement in cardinal motor features
Objective: To describe the topography of unilateral subthalamic nucleus (STN) lesions performed by magnetic-resonance guided focused ultrasound (MRgFUS) in Parkinson’s disease (PD), and define correlations…Using increase in Impedance as a pointer for an early detection of DBS hardware infection
Objective: To analyze the pattern of changing electrical impedance across the contacts of a DBS Lead after a Staphylococcus biofilm formation in an experimental model. Background: The…Preoperative higher impulsivity leads to better quality of life after deep brain stimulation in Parkinson’s disease
Objective: We aimed to explore which cognitive functions and neuropsychiatric symptoms affect QOL, and are therefore predictive of changes in QOL, before and after DBS…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.