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…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…Huntington disease in a Patient with Extensive Psychiatric History
Objective: Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder resulting from an expansion of CAG trinucleotide repeats in the gene encoding the huntingtin protein.…Efficacy of Ventral Intermediate Nucleus Deep Brain Stimulation for Head Tremors in Essential Tremor: A Single-Center Retrospective Analysis
Objective: To evaluate the efficacy of ventral intermediate nucleus (VIM) deep brain stimulation (DBS) in treating head tremors in patients with essential tremor (ET) and…Impact of Age of Symptom Onset in Essential Tremor on Cognition in Elderly Individuals
Objective: To evaluate the association between age of symptom onset and cognitive function in elderly individuals with Essential Tremor (ET). Background: ET is one of…
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