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,…Huntingtonism and bilateral basal ganglia hypointensity in a male with an XK variant but no McLeod red cell phenotype
Objective: To report a novel variant of XK without the characteristic RBC phenotype Background: XK disease (previously called McLeod Syndrome) is a rare X-linked disorder…TELO2 defect presenting with childhood-onset complex hyperkinetic MD
Objective: Expanding the TELO2-related phenotype by presenting a case with prominent hyperkinetic MD. Background: Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2…A family of Huntington’s disease with genetic anticipation in its paternal inheritance
Objective: We report a family of Huntington’s disease that exhibits genetic anticipation in its paternal inheritance. Background: HD is an autosomal dominant disorder with triad…Clinical and molecular features of Tunisian patients with Biallelic mutations in Huntington’s Disease
Objective: To investigate the clinical and molecular features of HD in homozygous versus heterozygous patients. Background: Huntington’s disease (HD) is a neurodegenerative autosomal dominant disorder…Case Study: Pitfalls of Commercial Genetic Testing for Huntington’s Disease
Objective: We present a family with initial false negative commercial testing for Huntington Disease (HD) and subsequent whole genome sequencing (WGS) that revealed an expanded…Huntington disease-like: an atypical presentation of Niemann-Pick type C.
Objective: Report a case of adult-onset Niemann-Pick disease type C (NPC) with Huntington disease-like (HDL) phenotype. Background: NPC is a neurodegenerative autosomal recessive lysosomal storage…
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