Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…Specialized palliative care for advanced Parkinsonian syndromes: bridging the gap
Objective: The Advanced Care Team for Parkinson’s (ACT-PD) pilot program at the Calgary Movement Disorders Clinic aimed to bridge gaps in specialized palliative care for…Paroxysmal Nonkinesigenic Dyskinesia in GLUT1 Deficiency Syndrome: A Rare Manifestation
Objective: We describe a rare case of paroxysmal nonkinesigenic dyskinesia (PKND) in a patient with GLUT1 deficiency syndrome (GLUT1-DS). Background: Various movement disorders are a…Spinocerebellar Ataxia Type 40 (SCA-40) with a Novel Mutation in an Indian Female: A Case Report
Objective: To report the first Indian patient with SCA 40 who presented in the fifth decade with a novel missense mutation (c.1291C>T, p.His431Tyr), expanding the…Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum
Objective: SCAR10/ Adult-onset autosomal recessive cerebellar ataxia is an exceptionally rare form of ataxia, caused by mutations in the ANO10 gene and the specific genotype–phenotypecorrelation…Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia
Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia2. To describe the imaging findings and to assess the neuropsychological profile…A Multidomain Fall Prevention Program: Perspectives of People with Parkinson’s Disease and their Care Partners
Objective: To explore the acceptability of a multidomain fall prevention program (Integrate) for people with Parkinson’s disease (PwP) and their care-partners, and factors that influenced…The Impact of Non-Invasive Brain Stimulation Timing on Physiotherapy Outcomes for Parkinson’s Disease a Systematic Review with Dose-Response Analysis
Objective: To determine the best timing for non-invasive brain stimulation (NIBS) intervention to enhance physiotherapy-induced motor recovery in patients with Parkinson's disease (PwPD), and to…Role and Integration of a Dietitian into the Deep Brain Stimulation Multidisciplinary Screening Process
Objective: Define the role and integration of a dietitian into the multidisciplinary screening process for deep brain stimulation (DBS) in movement disorders. Background: Most DBS…Frequency and Phenotype of GAA-FGF14 Disease in Bilateral Vestibulopathy Syndromes: Insights from Repeat Expansion Carriers, Including a Dual Diagnosis with RFC1-Related CANVAS
Objective: To study the frequency and phenotype of GAA-FGF14 expansions in a large cohort of patients with bilateral vestibulopathy (BVP) syndromes. Background: Intronic GAA repeat expansions in FGF14 cause spinocerebellar ataxia…
- « Previous Page
- 1
- …
- 116
- 117
- 118
- 119
- 120
- …
- 1734
- Next Page »