Acute Chorea in the Emergency Department: A Prospective Cohort Study
Objective: To analyze the clinical profile of patients with acute chorea at a Brazilian tertiary hospital emergency room (ER). Background: Chorea involves involuntary, rapid movements…Digital Measures for Clinical Trial Endpoints in Huntington’s Disease (MEND-HD): Study Design and Status Update
Objective: To evaluate and establish the analytical validation, reliability, and meaningfulness of digital measures of gait and chorea in early Huntington’s disease (HD). Background: HD…Chorea-acanthocytosis in Puerto Rico: A Case Series
Objective: To describe three unrelated cases of Chorea-acanthocytosis (ChAc) from Puerto Rico, featuring heterozygous and homozygous pathogenic variants Background: ChAc, a rare autosomal recessive neurodegenerative…Clinical and Genetic spectrum of Developmental dyskinetic encephalopathy – Experience from a Tertiary care centre
Objective: To provide unique data on the clinical and genetic spectrum of developmental dyskinetic encephalopathies. Background: Developmental dyskinetic encephalopathy(DDE) is a recently described clinically and…Adult-Onset Post-Pump Chorea: A Rare Manifestation Post-Cardiac Surgery in a Puerto Rican Patient
Objective: To report the first case of adult-onset post-pump chorea in Puerto Rico and raise awareness of our patient’s atypical age and onset of clinical…Genetic and clinical spectrum of pediatric hyperkinetic movement disorders in a Spanish tertiary center
Objective: To investigate the genetic etiology of pediatric hyperkinetic movement disorders (PMDs), characterize their associated phenotypes, comorbidities, and neuroimaging findings, and evaluate the impact of…Chorea as the initial presentation of Erdheim-Chester disease
Objective: to describe clinical and radiological findings, and disease progression in a patient with Erdheim-Chester disease (ECD) initially presenting with chorea. Background: ECD is a…Exploring the Characteristic Features of Speech and Facial Expressions in Patients with Huntington’s Disease Based on Machine Learning
Objective: This study analyzes the speech and facial characteristics of Huntington's disease (HD) and explores their relationship with clinical manifestations to develop machine learning models…Unraveling NKX2-1-related disorders: clinical, genetic, and neuroimaging insights from a global cohort
Objective: To analyze the clinical spectrum, genotype-phenotype correlations, and prognostic factors in NKX2-1-related disorders (NKX2-1-RD) through a multicenter study, providing insights for improved diagnosis and…Ataxia, the initial symptom in a patient with Huntington’s Disease and Acquired (non-Wilsonian) Hepatocerebral Degeneration
Objective: To describe a patient with Huntington disease and acquired (non-Wilsonian) hepatocerebral degeneration (AHD) presenting with ataxia. Background: AHD is a neurological disorder that occurs…
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