Does autosomal recessive Parkinson’s Disease behave as “Brain-first” subtype?
Objective: The aim of this study is to explore whether monogenic PD (due to parkin or DJ-1 homozygous mutations) can be subtyped as "brain-first" by…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.…
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