Factors influencing health-related quality of life of patients with spinocerebellar ataxia
Objective: The objective was to demonstrate the progression of HRQoL over time and identify factors affecting SCA patients' HRQoL. Background: Spinocerebellar ataxias (SCA) comprise a…A case of progressive ataxia with palatal tremor (PAPT) syndrome due to idiopathic bilateral hypertrophic olivary degeneration
Objective: To describe a patient with Progressive Ataxia with Palatal Tremor (PAPT) syndrome due to Idiopathic Bilateral Hypertrophic Olivary Degeneration Background: Hypertrophic olivary degeneration (HOD)…An uncommon task specific dystonia masquerading as Myasthenia Gravis
Objective: We present a case of late onset task specific segmental (cervico-lingual) dystonia misdiagnosed as bulbar myasthenia gravis. Background: Muscle diseases have been previously reported to mimic…Correlation of clinical profile of Parkinsonism with molecular imaging
Objective: CORRELATION OF CLINICAL PROFILE OF PARKINSONISM WITH MOLECULAR IMAGING (TRODAT AND PET-CT BRAIN) Background: The current study aims to establish the role of Molecular…Regional brain volume and cognitive alterations in Huntington’s Disease Patients
Objective: To investigate i) HD patterns of cortical and subcortical atrophies ii) associations between atrophy and clinical, motor and cognitive features. Background: Huntington’s disease (HD)…Development of an Item Bank for Assessing Psychosis in Parkinson’s Disease: A Systematic Review
Objective: This study aimed to develop an item bank for assessing psychosis in Parkinson's disease (PD). Background: Psychosis is a common and debilitating symptom in…Mitochondrial DNA copy number is associated with the severity of motor symptoms and dementia in Parkinson’s disease
Objective: We aimed to investigate the diagnostic and prognostic role of blood mitochondrial DNA copy number (mtDNA-CN) measured by whole genome sequencing (WGS) in relation…Exploring the effects of torsinA dysfunction in an iPSC-derived neuronal model of TOR1A dystonia
Objective: To investigate phenotypic differences between iPSC-differentiated cortical neurons derived from patients with TOR1A dystonia compared to healthy controls. Background: Primary generalised dystonia is most…Online education to promote compensation strategies for gait impairments in underserved Parkinson populations
Objective: Here, we explore the potential health benefits of using an online educational platform about compensation strategies for gait impairment in Parkinson’s disease (PD), in…How does a diagnosis of Dementia with Parkinson’s influence future care provision?
Objective: To describe the trajectory of Parkinson’s after the onset of dementia including setting of care, frailty levels and mortality rate. Background: Cardiff and Vale…
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