A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia
Objective: To investigate the molecular consequences of a variant of unknown significance (VUS) in POLG2. Background: Mitochondrial DNA (mtDNA) is replicated by DNA polymerase gamma,…Huntington’s disease in Egypt; A big challenge for a mysterious disease
Objective: To identify the challenges of managing Huntington’s disease in Egypt in order to overcome them. Background: Huntington’s disease (HD) is considered a rare disease…Healthcare Utilization and Cost Burden at the End-of-Life Among Medicare Beneficiaries with Huntington’s Disease
Objective: To examine healthcare utilization (HCU) and costs occurring at the end of life among deceased Medicare beneficiaries who were diagnosed with Huntington’s disease (HD).…Myoclonic epilepsy with ragged-red fibers: the first described clinical case in Ukraine
Objective: To provide a description of a case of myoclonic epilepsy with ragged-red fibers (MERRF) diagnosed in Kyiv, Ukraine. Background: MERRF is a rare mitochondrial…Tau Neuropathology Associates with In Vivo Patterns of Neurodegeneration in Lewy Body Disorders
Objective: Investigate the impact of Alzheimer’s disease (AD) co-pathology on an in vivo structural measure of neurodegeneration in Lewy Body disorders (LBD: Parkinson’s Disease and…Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders
Objective: We test the hypothesis of modulating subthalamic neuronal firing pattern via injection of hyperpolarizing current as an effective treatment for hyperkinetic movement disorders. Background:…The clinical spectrum of movement disorders associated with neuronal antibodies
Objective: To describe the clinical and treatment characteristics of movement disorders associated with antibodies (Abs) against neuronal synaptic extracellular (NMDAR, LGI1, CASPR2, IgLON5, Glycine receptors…Say “AH~”: Vocal Analysis in Parkinson’s Disease and Essential Tremor
Objective: We aimed to investigate useful vocal parameters in differentiating PD and ET, using a machine-learning algorithm. Background: Correlation between Parkinson's disease (PD) and essential tremor (ET)…The Future of Hospitalization for People with Parkinson’s Disease
Objective: To share the discussion of the December 6, 2019 Parkinson’s Hospitalization Convening. Background: On December 6, 2019, The Parkinson’s Foundation (PF) assembled thought leaders…Confrontation Naming Deficit in Lewy Body Dementia Patients with Alzheimer’s Disease Co-Pathology
Objective: To test the association between confrontation naming performance and Alzheimer’s disease (AD) co-pathology as defined by cerebrospinal fluid (CSF) biomarkers in Lewy body dementia…
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