The Role of FGF14 GAA Repeat Expansions in Multiple System Atrophy: Frequency, Phenotypic Correlations, and Prognostic Implications
Objective: This study aimed to investigate the frequency of FGF14 GAA•TTC repeat expansion in clinically diagnosed and pathologically confirmed multiple system atrophy cases. Background: Partial…Neuroprotective efficacy of EDTA against manganese neurotoxicity: Implications for modulating Parkinsonian syndromes
Objective: This study investigates the neuroprotective potential of ethylenediaminetetraacetic acid (EDTA) in reducing the neurotoxic effects of manganese (Mn), focusing on both motor and non-motor…White Matter Abnormalities in Progressive Supranuclear Palsy (PSP) vs. Parkinson’s Disease (PD): Evaluation with a Convolutional Neural Network (CNN)-Based Tool
Objective: This study aimed to compare white matter hyperintensity (WMH) burden between PSP and PD using a novel AI-based tool for more accurate WMH volume…The Sedentary Index (SI) for Daily Life Activity Monitoring in Progressive Supranuclear Palsy (PSP)
Objective: To confirm the feasibility of daily life physical activity monitoring in PSP using a single activPAL sensor, and to examine preliminary associations between overall…Is Urinary Retention a Marker of Possible Prodromal MSA in PAF?
Objective: This study aims to evaluate the role of post-void urinary residual volume (PVR) in Pure Autonomic Failure (PAF) and its prognostic value as a…Multiscale entropy: a New Oculomotor Measure of PSP.
Objective: The objective of this study was investigate whether multiscale entropy, a measure of complexity, when applied to the path of unconstrained eye movements could…Rethinking Parkinsonism: Limitations in Clinical Diagnosis
Objective: To highlight the limitations in clinically differentiating PD and MSA. Background: The antemortem differentiation of parkinsonian syndromes remains challenging due to overlapping symptomatology, particularly…Clinical and Pathological Features of CSF1R-Related Disorder Associated with the c.2330G>A, p.R777Q Pathogenic Variant
Objective: To report the clinical and pathological features of CSF1R-RD associated with the c.2330G>A, p.R777Q variant, and to report a new family carrying this variant.…When post-radiotherapy parkinsonism can hide another one : A case report.
Objective: To describe a patient who presented with subacute and reversible post-radiotherapy parkinsonism (<2 months), allowing treatments to be weaned; and then delayed post-radiotherapy parkinsonism…Parkinsonism in KMT5B-related Disorders: Expanding the Spectrum.
Objective: To describe a novel association between parkinsonism and a pathogenic variant in the KMT5B gene, expanding the clinical spectrum of KMT5B-related disorders. Background: Neuropsychiatric…
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