SLC20A2 mutation manifesting as very-late onset orofacial dyskinesia
Objective: We report two cases of genetically confirmed PFBC with a SLC20A2 mutation that presented with very-late onset orofacial dyskinesia. Background: Primary familial brain calcification…A Virtual Speech Therapist for Parkinson’s Disease
Objective: This study was designed as a pilot investigation to explore the use of virtual therapy in the delivery of LSVT LOUD ® (Lee Silverman…Preferences for exercise in people with Parkinson’s disease: A discrete choice experiment
Objective: To identify attributes of evidence-based exercise programs associated with the willingness of people with Parkinson’s disease (PD) to engage in additional exercise. Background: People…Quality of Life Study of Patients Living with Parkinson’s Disesae in Sub-Saharan Africa
Objective: The objective is to assess the quality of life of patients with Parkinson's disease followed in Senegal. Background: Parkinson's disease is a neurodegenerative disease,…PKAN is associated with significant peripheral metabolic alterations in the Dominican Republic cohort
Objective: Applying segmental bioimpedance testing to assess peripheral metabolic alterations in PKAN. Background: PKAN is a rare autosomal recessive disorder with >50 different mutations in…PNPLA6-related Disorder With Expanded Phenotype Including Parkinsonism, Dystonia, And Abnormal Dopamine Transporter Imaging
Objective: To present a case of PNPLA6-related disorder with an expanded phenotype. Background: PNPLA6-related are autosomal recessive disorders with heterogeneous clusters of cerebellar ataxia, upper…Ambulatory Capacity Measure derived from the Movement Disorders Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS)
Objective: (1) Construct a measure of ambulatory capacity derived from the MDS-UPDRS that is similarly structured to the original Ambulatory Capacity Measure (ACM) derived from…Heterozygous mutation in CCDC88C gene as a cause of early onset pure hereditary spastic paraplegia
Objective: The objective of this study was to identify the molecular diagnosis of a Sudanese lady presenting with pyramidal signs and symptoms using whole exome…A case of cervical dystonia resulting from Vim-DBS surgery that was then responsive to stimulation: quantitative analysis of therapeutic effect on both fixed dystonic posture and dystonic tremor
Objective: To (1) report a case of cervical dystonia resulting from ventral intermediate nucleus (Vim) thalamic deep brain stimulation (DBS) surgery, which was then responsive…Parkinson disease phenotype classification predicts the outcome of deep brain stimulation
Objective: To analyze the differential response to subthalamic Deep brain stimulation (STN-DBS) among different Parkinson’s disease (PD) phenotypes, as per the new PD subtype classification…
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