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…Readiness for genetic testing among Indian movement disorder patients:A tertiary centre experience
Objective: To assess knowledge & attitude of Indian patients with movement disorders and their caregivers to understand their readiness for genetic testing. Background: Genetic testing…Hemochromatosis and Movement Disorders
Objective: To describe a series (clinical and imaging) of movement disorders occurring in patients with hemochromatosis Background: Hemochromatosis is a frequent disease, characterized by deposits…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,…
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