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Jun-Sang Sunwoo 1 Article
A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
J Mov Disord. 2010;3(2):45-47.
DOI: https://doi.org/10.14802/jmd.10012
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  • 5 Crossref
AbstractAbstract PDF

Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.

Citations

Citations to this article as recorded by  
  • Clinical Review of Juvenile Huntington’s Disease
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    Journal of Huntington's Disease.2024; : 1.     CrossRef
  • Drug-Resistant Epilepsy in Children with Juvenile Huntington's Disease: A Challenging Case and Brief Review
    Abdulhafeez M. Khair MD, Jessica Kabrt DO, Stephen Falchek MD
    Qatar Medical Journal .2020;[Epub]     CrossRef
  • Introducing an expanded CAG tract into the huntingtin gene causes a wide spectrum of ultrastructural defects in cultured human cells
    Ksenia N. Morozova, Lyubov A. Suldina, Tuyana B. Malankhanova, Elena V. Grigor’eva, Suren M. Zakian, Elena Kiseleva, Anastasia A. Malakhova, Hiroyoshi Ariga
    PLOS ONE.2018; 13(10): e0204735.     CrossRef
  • Tics as an initial manifestation of juvenile Huntington’s disease: case report and literature review
    Shi-Shuang Cui, Ru-Jing Ren, Ying Wang, Gang Wang, Sheng-Di Chen
    BMC Neurology.2017;[Epub]     CrossRef
  • Neuropathological Comparison of Adult Onset and Juvenile Huntington’s Disease with Cerebellar Atrophy: A Report of a Father and Son
    Caitlin S. Latimer, Margaret E. Flanagan, Patrick J. Cimino, Suman Jayadev, Marie Davis, Zachary S. Hoffer, Thomas J. Montine, Luis F. Gonzalez-Cuyar, Thomas D. Bird, C. Dirk Keene
    Journal of Huntington's Disease.2017; 6(4): 337.     CrossRef

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