Incorporating Patient and Care Partner Feedback on the Protocol for a Clinical Trial Assessing Progression in MSA
Objective: Describe the perspectives of people living with MSA (PwMSA) and their care partners on the design and operational characteristics of a phase 3 trial…Clinical Characteristics and Antipsychotic Medication Use in Pediatric Population Diagnosed With Tourette Syndrome
Objective: To assess the clinical characteristics and rate of antipsychotic medication discontinuation in a pediatric cohort diagnosed with Tourette syndrome (TS). Background: It is estimated…Efficacy and Safety of Ecopipam for Tourette Syndrome (TS): Results From a Phase 3, Randomized, Double-Blind, Placebo-Controlled Withdrawal Trial
Objective: To evaluate the efficacy and safety of ecopipam, a dopamine D1 receptor antagonist, as a maintenance therapy in children, adolescents, and adults with TS.…Oligodendrocyte-specific mRNA therapy with lipid nanoparticles
Objective: To develop lipid nanoparticles with high efficiency and specificity to introduce mRNA into oligodendrocytes. To denmonstrate the potential therapy of Krabbe disease as one…Functional and Biomechanical characterization through the progression of Parkinson’s Disease
Objective: To describe clinical, electromyographic, and gait kinematic parameters throughout Parkinson’s disease (PD) progression Background: PD is the second most prevalent neurodegenerative disease worldwide. Classic…Imbalance and falls in individuals with Hereditary Spastic Paraplegia
Objective: The aim of this systematic review is to assess imbalance and falls in patients with HSP through a systematic and comprehensive evaluation of the…Awareness and Implementation of Advanced Care Planning in Patients with Neurodegenerative Diseases
Objective: This study aims to evaluate the awareness and implementation of advanced care planning (ACP) in patients with neurodegenerative diseases in Japan. Background: Although ACP…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…Refractory Orthostatic Hypotension, Anterocollis Predominant Cervical Dystonia and Parkinsonism Associated with a Previously Undiscovered SYT14 Gene Mutation
Objective: We present a case of a patient with spinocerebellar ataxia symptoms associated with a previously unknown mutation of the SYT14 gene. Background: Spinocerebellar ataxias…Hypothalamic Atrophy in CANVAS/RFC1
Objective: We aimed to investigate hypothalamic volumetry in CANVAS/RFC1. Background: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is now recognized as a late-onset multisystem…
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