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…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…ATP1A3-related disorder overlapping syndrome: a case report
Objective: The phenotypic spectrum in dystonic syndromes in ATP1A3-related disorders is wide. History of drug-refractory seizures, developemental delay, incoordination, dysarthria and dysphagia and movement disorders…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…
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