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)…Correlations of plasma glial fibrillary acidic protein levels with glymphatic system impairment in Huntington’s disease
Objective: To investigate whether plasma glial fibrillary acidic protein (GFAP) levels are related to glymphatic system function in Huntington's disease (HD). Background: Plasma GFAP levels has…Hashimoto Encephalopathy, A Choreiform Presentation
Objective: We report the case of a woman with chorea as lonely feature Background: Hashimoto encephalopathy is a rare autoimmune and vasculitis encephalopathy. The first…Blood-based somatic CAG repeat expansion and clinical progression in Huntington’s disease patients from Western China
Objective: To investigate the association between blood-based somatic CAG repeat expansion ratio (SER) and clinical characteristics in Huntington’s disease (HD) patients from Western China. Background:…Autonomic Nervous System Dysfunction in Patients with Huntington’s Disease: Preliminary Results Using the COMPASS-31 Scale
Objective: To characterize dysautonomia-related symptoms in Huntington’s disease (HD) gene expansion carriers (HDGECs). Background: Autonomic nervous system (ANS) dysfunction is a recognized feature of HD…
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