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…Using telemedicine and wearable technology to establish a virtual clinic for people with Parkinson’s
Objective: Addressing the need for a sustainable, patient-centered and effective movement disorder service we set up a virtual clinic (VC) for patients with Parkinson’s disease,…
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