Anal Sphincter EMG changes can Progress over Time and can be considered as a Prognostic Marker in MSA
Objective: To assess the usefulness of repeat anal sphincter EMG for prognostication of MSA Background: External anal sphincter (EAS) electromyography (EMG) is an established method…Relationship Between Alpha-Synuclein Aggregation Profiles, Imaging Biomarkers, and Disease Severity in a Phase 2 Study of ATH434 in MSA
Objective: To investigate the relationships between α-synuclein aggregation profiles, imaging biomarkers, and UMSARS I scores in the ATH434-201 Phase 2 study. Background: Multiple system atrophy…A Quantitative Systems Disease Model for Progressive Supranuclear Palsy.
Objective: Developing a computer model integrating the PSP pathology to support clinical trial for new disease-modifying therapies Background: Progressive Supranuclear Palsy is a fast progressing…An Interesting Case of Oculo-Palatal-Pharyngeal Tremor
Objective: We present a case report of a 59 year old with a diagnosis of clinically possible progressive supranuclear palsy (PSP) and clinical finding of…Parkinsonism in KMT5B-related Disorders: Expanding the Spectrum.
Objective: To describe a novel association between parkinsonism and a pathogenic variant in the KMT5B gene, expanding the clinical spectrum of KMT5B-related disorders. Background: Neuropsychiatric…Dopamine-Responsive Post-Anoxic Parkinsonism
Objective: To describe a retrospective case series of five cases of dopamine-responsive post-anoxic parkinsonism. Background: Parkinsonism following hypoxic ischemic damage of the basal ganglia is…Heterozygous ATP7B variants in patients with parkinsonism
Objective: To describe a retrospective case series of thirteen cases carriers of heterozygous variants of the ATP7B gene manifesting with specific cases of parkinsonism. Background:…Accuracy of diagnostic tests in determining clinical improvement following shunt in normal pressure hydrocephalus (NPH) – a systematic review and meta-analysis
Objective: To study the pooled sensitivity and specificity of the CSF tap test and lumbar infusion test. Background: Idiopathic Normal pressure hydrocephalus is a condition…Clinical and Genetic Characteristics of PLA2G6-parkinsonism in Southwest China and a Comprehensive Literature Review
Objective: To comprehensively characterize the clinical, imaging and genetic features of PLA2G6-related parkinsonism. Background: Biallelic PLA2G6 mutations are associated with early-onset autosomal recessive parkinsonism, exhibiting a…Rapid Onset Progressive Dystonia with Parkinsonism
Objective: To illustrate a case of a patient presenting with oromandibular dystonia with blepharospasm (Meige syndrome) and progressing to a segmental dystonia with parkinsonism. This…
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