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…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…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…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…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…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…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…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…Huntington disease in a Patient with Extensive Psychiatric History
Objective: Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder resulting from an expansion of CAG trinucleotide repeats in the gene encoding the huntingtin protein.…Huntington’s Disease Care and Patient Diversity in California, United States
Objective: Describe HD patient demographics and healthcare utilization based on Huntington’s Disease Society of America (HDSA) Center of Excellence (COE) status using the California (CA)…
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