FGF14 repeat expansions: prevalence and case series of patients with SCA27B from Slovakia
Objective: This study aimed to investigate the presence of pathogenic repeat expansion in the Fibroblast Growth Factor (FGF14) gene in patients with idiopathic late-onset cerebellar…Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family
Objective: To report a GYG1 mutation in a Peruvian family presenting as a non classified Spinocerebellar Ataxia (SCA) with added GEMIN5, DES and TPM3 mutations.…Cryptococcal meningitis as a rare cause of acute generalized chorea: a report of an interesting case
Objective: To describe a case with cryptococcal meningitis as a rare cause of adult-onset acute generalized chorea. Background: Chorea is an abnormal movement characterized as…Myoclonus and Encephalitis as an Adverse Event of mRNA COVID-19 Vaccine
Objective: We aim to report a case of myoclonus as an adverse event mRNA COVID-19 vaccine. Background: There have been multiple reports of neurological adverse…Efficacy and Safety of DaxibotulinumtoxinA-lanm for Injection in Adults with Cervical Dystonia: Pooled Global Analysis of ASPEN-1 and ASPEN-1-CN
Objective: To evaluate the pooled efficacy and safety of 2 doses of DaxibotulinumtoxinA-lanm for injection (DAXI) for the treatment of cervical dystonia (CD) in 2…Clinical Characteristics and Management Practices of Pediatric Status Dystonicus
Objective: We present 20 cases of pediatric status dystonicus at a major pediatric center and describe their clinical course. Background: Status dystonicus (SD) is a rare, life-threatening…Precision Functional Mapping of Therapeutic Response in Task-specific Focal Dystonia
Objective: To precisely characterize patient-specific connectivity changes in response to botulinum toxin injection. Background: Adductor laryngeal dystonia (ADLD) is a type of task-specific focal dystonia…Transcranial magnetic stimulation target comparison identifies motor network reorganization associated with behavioral improvement in writer’s cramp dystonia
Objective: This study aims to reveal the motor network effects of repetitive transcranial magnetic stimulation (rTMS) in Writer's cramp (WC) subjects that correspond to behavioral efficacy.…Serum urea and clinical outcomes in Huntington’s disease
Objective: To investigate the relationship between serum urea levels and clinical outcomes in people with Huntington’s disease. Background: Several studies in people with Huntington’s disease…Genetic Migration Dynamics: Unraveling the Influence of Internal Migration on Huntington’s Disease Prevalence in the Amazonas State.
Objective: In this study, we investigate the influence of internal migration within Brazil on the prevalence of Huntington's disease in the state of Amazonas. Background:…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.