Dopa-Responsive Parkinsonism Secondary to Tauopathy: Clinical, Pathological, and Genetic Study
Objective: To report on the clinical, pathological, and genetic findings of four cases of levodopa-responsive parkinsonism with long survival and tauopathy. Background: The most common…The IMPACT study: protocol of a randomised controlled single-blind trial evaluating efficacy and cost-effectiveness of telenursing in atypical parkinsonism
Objective: To present the protocol of a study evaluating the efficacy and cost-effectiveness of a 12-month integrated program aimed at improving healthcare delivery and coordinated…Stroke, Chronic Ataxia and Tremor in a Pediatric Patient with c.2137C>A Genetic Variant in CACNA1A
Objective: To describe a pediatric case of chronic non-progressive ataxia, nystagmus, kinetic tremor, refractory epilepsy, and arterial ischemic stroke (AIS) associated with a CACNA1A c.2137C>A…Neuroimaging abnormalities of the striatopallidal regions in people with diabetes: A single-center retrospective study
Objective: To describe the imaging abnormalities affecting striatopallidal regions (SP; caudate, putamen, and globus pallidum) in people with diabetes mellitus (DM). Background: DM can lead…Precision Gene Therapy Results in Clinical Benefit and Developmental Gains for Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): The UK Experience
Objective: To describe the UK cohort of children who have received regional brain-targeted gene therapy (GT) for AADCd Background: Classical AADCd is an ultra-rare genetic…Clinical predictors of home-based motor learning of touchscreen skills in Parkinson’s disease
Objective: To prospectively identify the predictors of motor learning gains in a heterogeneous cohort of people with Parkinson’s disease (PD). Background: Retaining improvements of motor…A Comprehensive Exploration of the Quality of Life and Caregiver Burden in Multiple System Atrophy
Objective: To evaluate the impact of MSA disease on QoL and caregiver burden and identify influencing factors of QoL in a large UK-based cohort Background:…Pleozymes, A Multifunctional Nanozyme for Targeting Metabolic Deficits in Friedreich’s Ataxia
Objective: Mitochondrial dysfunction in Friedreich’s Ataxia (FRDA) results from GAA repeat expansion in the FXN gene, reducing frataxin levels thus disrupting iron-sulfur clusters essential for…Clinical and Neuroimaging Findings in ANO10-Related Cerebellar Ataxia: Evidence of Widespread Brain Atrophy
Objective: The aim of this study was to evaluate clinical manifestations and magnetic resonance imaging (MRI) changes in patients with ANO10 gene mutations. Background: Neurodegenerative…An Atypical Case of Ataxia and Hyperkinetic Movements
Objective: The objective of this case study is to highlight a rare neurological manifestation of Sjogren's disease. Background: The neurological manifestations of Sjogren’s disease can…
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