A Novel Mutation of NKX2-1 Gene: A Rare Presentation of Chorea
Objective: NKX2-1-related disorders encompass a spectrum extending from benign hereditary chorea (BHC) to choreoathetosis, hypothyroidism, neonatal respiratory distress. The prevalence of chorea remains undetermined, albeit…Spectrum of Non-HD Hereditary Chorea- Case Series from An Indian Movement Disorder Centre
Objective: To identify and characterize the hereditary chorea other than Huntington’s disease (HD) in an Indian movement disorder clinic. Background: Approximately 1-3% of HD phenotypes…Fahr’s Disease Presenting as Chorea: A Rare Case Report
Objective: Given its rare incidence, there was a limited study reporting Fahr's Disease (FD) presenting as chorea. Background: FD is a rare condition characterized by…Choreoacanthocytosis: The First Genetically Confirmed Cases From Algeria
Objective: Here we describe for the first time two unrelated cases of genetically confirmed Choreoacanthocytosis from Algeria. Background: Choreoacanthocytosis is a rare and severe inherited…Epidemiology of Huntington’s Disease in Latin America: A Systematic Review and Meta-analysis.
Objective: To calculate the pooled prevalence of Huntington's Disease in Latin America. Background: Latin America has played a crucial role in advancing our understanding of…Asymmetric Symptomatic Huntington’s Disease in a Patient with Intermediate Range Trinucleotide Repeats
Objective: We report a case of probable symptomatic Huntington’s Disease (HD) in a patient with intermediate range trinucleotide repeats. Background: Huntington’s Disease is an autosomal…Ataxia and Parkinsonism Related with CAG Expansion Size in a Cohort of Huntington’s Disease in the Brazilian Amazon Region.
Objective: We conducted genetic and clinical assessments in 22 families, with genetic diagnosis in 51 patients with HD in the state of Amazon, Brazil. The main objectives are evaluating demographics, genetic characteristics,…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:…ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…Delineating the Molecular and Clinical Spectrum of Epilepsy-Dyskinesia Syndromes in Children (The Epilepsy-Dyskinesia Spectrum Study)
Objective: To understand the spectrum and association of movement and seizure disorders on a clinical and molecular level. Background: Epilepsy-Dyskinesia Syndromes (EDS) are neurological conditions…
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