May CSF biomarkers have a role in degenerative parkinsonian syndromes workup?
Objective: To evaluate the role of cerebrospinal fluid (CSF) biomarkers in the differential diagnosis of degenerative parkinsonian syndromes. Background: The differential diagnosis of degenerative parkinsonian…Tourette Syndrome with Functional Overlay: A Diagnosis Challenge and The Role of Electrophysiological Study
Objective: To highlight the role of electrophysiological study (Ephy) as a useful diagnostic tool. Background: Tics with functional overlay are characterised by acute worsening of…A Comparison of Cervical Dystonia in Parkinson’s Disease and Idiopathic Isolated Cervical Dystonia
Objective: To perform a prospective analysis of the prevalence and clinical characteristics of cervical dystonia in Parkinson’s disease (CD-PD) and compare these features to those…Outcomes From Genetic Testing in a UK Movement Disorder Clinic
Objective: The reported yield from next generation sequencing (NGS) in Movement Disorder clinics is 11.3 – 22% [1,2]. We aimed to determine current practice and yield…An international consensus statement for rehabilitation care in Parkinson’s disease
Objective: To develop a consensus statement regarding the incorporation of rehabilitation in Parkinson’s (PD) care. Background: As a complex, progressive disorder, PD can impact daily…Hydrocephalus associated with Chiari-I malformation presenting with parkinsonism and dystonia
Objective: To provide a case description of dystonia-predominant parkinsonism due to underlying hydrocephalus associated with CIM in an adult. Background: Hydrocephalus is estimated to be…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…Cortical mean diffusivity and cortical thickness in essential tremor
Objective: To study the cortical microstructure in ET patients Background: Essential tremor (ET) is a common movement disorder, but the pathogenesis is poorly understood. Several…Learnings from inaugural year of foundation sponsored genetic counseling and testing program for Spinocerebellar Ataxia (SCA) types 1, 2, and 3
Objective: To describe volume, genetic results, and participant perceptions of foundation sponsored genetic counseling and testing program for SCA 1, 2, and 3. Background: Molecular…3D-accelerometry characteristics of essential tremor and dystonic tremor
Objective: We aimed to characterize essential tremor and dystonic tremor using 3D accelerometry analysis. Background: Diagnosing essential tremor (ET) and dystonic tremor (DT) is often challenging.…
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