Deep brain stimulation in chorea: four cases and literature review
Objective: We present four cases of pediatric chorea managed with deep brain stimulation (DBS) and review previously reported cases in the literature. We review clinical…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…Juvenile Huntington’s Disease in Tunisia: Clinical Diversity and Literature review
Objective: We conducted the first JHD clinical and molecular features in Tunisia and North Africa, contributing to better understanding the diverse manifestation of the disease…Speech markers of Presymptomatic and Prodromal Huntington’s disease
Objective: To investigate the sensitivity of digital speech measures for detecting subtle cognitive-linguistic and fine motor features in people carrying the expanded HD gene, with…Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…
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