Malnutrition Risk in Huntington’s Disease: A Cohort Study on Prevalence and Prognosis with Mendelian Randomization Validation
Objective: This study aimed to investigate malnutrition prevalence (using the Controlling Nutritional Status Score [CONUT], Prognostic Nutritional Index [PNI], and Geriatric Nutritional Risk Index [GNRI]),…The Importance of a Through Serum Evaluation and Genetic Testing to Avoid Delays in Diagnosis of Chorea-acanthocytosis: A Case Report
Objective: To emphasize the importance of a thorough serum evaluation and genetic testing for new onset chorea to avoid delays in diagnosis of chorea acanthocytosis.…Uremic Striatopallidal Syndrome Manifesting As Acute Onset Chorea
Objective: The relationship between movement disorders and renal diseases is complex and multifaceted. Movement disorders can occur as manifestations of azotemia (uremic encephalopathy, uremic striatopallidal…A Dance with Sydenham, it’s Never Too Late to Tango
Objective: Sydenham’s Chorea (SC) is a predominantly female childhood disorder characterized by irregular, fluid-like, involuntary movements. Here we present a case of isolated Sydenham’s chorea…Huntington-like disease type 2 caused by a JPH3 repeat expansion in a patient from Iraq
Objective: To report the case of a patient from Iraq with a Huntington disease-like phenotype who was found to have a heterozygous trinucleotide repeat expansion…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…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…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…
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