Diverse clinical phenotypes of ATP1A3 mutations-A case series of four patients
Objective: To study the clinical phenotype of all patients with ATP 1A3 mutation in the genetic study Background: ATP1A3 is associated with a broad spectrum…Parkinsonism in Uzbekistan: Clinical and Demographic Insights from 2024
Objective: We retrospectively analyzed the medical records of all parkinsonism patients admitted to our clinic in 2024, examining neurological, psychiatric, radiological, and demographic characteristics of…Frontal and Motor TMS Evoked Potentials Predict Response to Ventriculoperitoneal Shunt in NPH
Objective: Assess the ability of neurophysiological measure of TMS evoked potentials to predicts response to shunting in NPH. Background: NPH is an age-related condition of…Balance confidence may not accurately assess fall risk in atypical parkinsonism
Objective: Objective: To examine if balance confidence, measured by the Activities-specific Balance Confidence (ABC) scale, reflects fall frequency in atypical parkinsonian syndromes (APS), namely multiple…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…Novel Heterozygous Variant in DCTN1 Associated with Perry Syndrome
Objective: To identify novel mutations in DCTN1 associated with autosomal dominant Perry syndrome and investigate their potential pathogenic mechanisms. Background: Perry syndrome is a neurodegenerative…Brain perfusion patterns associated with motor symptoms in multiple system atrophy
Objective: There is a need for objective methods to assess disease progression in multiple system atrophy (MSA). This study aimed to identify brain perfusion patterns…Alpha Synuclein Seeding Activity Drives Disease Heterogeneity in an Animal Model of Multiple System Atrophy
Objective: To examine the impact of multiple system atrophy (MSA) brain-derived alpha synuclein (αSyn) with diverse seeding activities in an inoculation-based animal model. Background: We…Noradrenaline treatment of apathy and impulsivity in participants with Progressive Supranuclear Palsy syndromes (NORAPS)
Objective: The NORAPS phase II study (ISRCTN99462035) investigates the safety, tolerability and efficacy of atomoxetine in Progressive Supranuclear Palsy (PSP). Background: PSP is a neurodegenerative…Bulbar Symptoms Precede Diagnosis in Early-Onset, but not in Typical- to Late-Onset Friedreich Ataxia: Real-World Data From Medical Claims
Objective: To determine the age at onset of bulbar symptoms in patients with Friedreich ataxia (FA) based on real-world data from US medical claims. Background:…
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