Fragile X Associated Tremor and Ataxia Syndrome (FXTAS) presents with widespread reactive gliosis and white-matter specific astrocyte degeneration
Objective: We will characterize neuropathological alterations of astrocytes in different regions of the FXTAS brain. Background: FXTAS is a progressive neurodegenerative disorder that occurs in…SETTING UP A PEDIATRIC DEEP BRAIN STIMULATION UNIT
Objective: Describe our 2-year experience establishing a pediatric deep brain stimulation (pDBS) service in a tertiary hospital and report our outcomes. Background: DBS is a…Cognition in Huntington’s Disease
Objective: Explore the cognitive profile of patients with Huntington’s Disease (HD) using a digital cognitive battery Background: Huntington’s Disease (HD) is a relentlessly progressive neurodegenerative…Short and long-term Impact of Covid-19 Pandemic on motor and non-motor symptoms in Leucine-rich repeat kinase2 (LRRK2) associated Parkinson’s disease
Objective: To determine short and long-term impact of COVID-19 on motor(MS) and non-motor(NMS) symptoms among Tunisian PD patients according to Leucine-rich repeat kinase2 (LRRK2)-carrying status.…Connectivity matrices for differentiating voluntary stopping states and involuntary freezing states in Parkinson’s disease
Objective: The present study aims to demonstrate a possible application of the analysis of functional brain connectivity from brain connectivity matrices. Specifically, we aim to: - Differentiate…Diagnostic accuracy of dopamine SPECT in degenerative parkinsonism compared to neuropathological diagnosis.
Objective: To evaluate diagnostic accuracy of dopamine SPECT against neuropathological diagnosis in a large cohort of patients with parkinsonism. Background: Diagnosis of parkinsonian syndromes remains…Studying Care Patterns and Support Preferences Among People Living with Parkinson’s Disease
Objective: To understand health care utilization among Medicare beneficiaries living with Parkinson’s Disease (PD) and how care patterns differ across demographic groups. Background: Optimal care…LRRK2 Inhibition by BIIB122: Trial designs for two efficacy and safety studies in Parkinson’s disease patients with and without LRRK2 mutations (Lighthouse and Luma)
Objective: Describe Luma and Lighthouse, two studies that investigate efficacy and safety of BIIB122, a LRRK2 inhibitor. Background: Increased LRRK2 kinase activity has been linked…Feasibility of using ENROLL-HD for health services research: Evaluation of delays in Huntington’s Disease (HD) Diagnosis
Objective: To describe social and structural determinants of health of HD patients and to evaluate the feasibility of using this dataset for health services research.…GLUT1 Deficiency Syndrome with Novel mutation responsive to GPi DBS
Objective: To describe a case of a patient with a progressive primary isolated generalized dystonia of childhood onset associated to a novel SLC2A1 mutation with…
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