Identification of pre-frailty in the elderly through serum metabolomics and its impact on Parkinson’s disease phenotype
Objective: We attempted to better characterize pre-frailty using serum metabolomics in a large cohort of elderly subjects without neurodegenerative diseases. Next, we sought to investigate…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…Unilateral GPi DBS in Secondary Myoclonus-Dystonia Syndrome after Acute Disseminated Encephalomyelitis: A Case Report
Objective: To present a case of deep brain stimulation (DBS)-ameliorated myoclonus-dystonia syndrome secondary to acute disseminated encephalomyelitis (ADEM) and characterize fibers and circuits affected by…Access-PD – a ‘next generation’ registry to accelerate Parkinson’s disease research
Objective: To establish an integrated and fully remote registry for Parkinson’s disease (PD) in England, that leverages both electronic health records (EHR) and electronic patient-reported…Impact of Decreased Cognitive Function on the Risk of Falling in the Elderly
Objective: This study aims to examine the correlation between cognitive function and the risk of falling in the elderly. Background: Falling is one of the…Tau PET imaging in a patient with progressive supranuclear palsy-parkinsonism-a case report
Objective: Early detection of the brain tau deposition in patients with progressive supranuclear palsy-parkinsonism (PSP-P) by 18F-PMPBB3 positron emission tomography (PET) imaging. Background: PSP is…Pallidal or subthalamic DBS for advanced Parkinson’s disease in the era of high-resolution MRI
Objective: We aimed to assess outcome of GPi-DBS and STN-DBS implanted based on high-resolution MRI. Background: Both GPi-DBS and STN-DBS are effective for treatment of…Monogenic Dystonia and Deep Brain Stimulation: Single Center Experience
Objective: The aim of this study was to retrospectively assess the efficacy of deep brain stimulation in patients with confirmed monogenic dystonia. Background: Treatment of…Diffusion Tensor Imaging in GBA-related Parkinson’s disease
Objective: To study the white matter involvement in Parkinson's patients with Glucocerebrosidase mutations (GBA-related PD). Background: While Parkinson's disease (PD) is a neurodegenerative disease with…DNAJC12 defect a new neurodevelopmental disorder associated with parkinsonism-dystonia
Objective: to expand the phenotypic characterization of this rare disorder, clinical presentation and outcome of a cohort of patients affected DNAJC12 defect are reported. Background:…
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