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…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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