Huntington’s Disease

  • Miroslav CuturicEmail author


Huntington’s disease (HD) is a neurodegenerative disorder with autosomal dominant inheritance and complete expression. The genetic defect is caused by CAG trinucleotide expansion on the short arm of chromosome 4, resulting in the production of an expanded polyglutamine region in the mutant huntingtin protein. The illness usually emerges in middle age and is characterized by psychiatric, cognitive, and motor deterioration, with chorea being the most recognizable symptom. HD has a unique position among other neurodegenerative disorders as it bridges the boundaries separating disciplines of neurology, psychiatry, and genetics. Currently, there is no disease-modifying therapies or cure for HD. Therefore, treatment is based largely on lifestyle interventions, supportive management, and symptomatic treatment. With respect to research and drug development, HD can serve as a model for other trinucleotide repeat disorders, protein aggregation disorders, as well as dementia, psychiatric, and movement disorders. Emerging experimental treatment strategies are focusing on gene therapy through the use of antisense oligonucleotides, micro RNA, modulators of gene expression and gene editing. Particular research interest is devoted to the identification of biomarkers that would enable evaluation of the therapies before the clinical onset of the disease.


Huntington chorea Huntingtin CAG trinucleotide repeat Polyglutamine Gene therapy 


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Authors and Affiliations

  1. 1.Department of NeurologyUniversity of South Carolina School of MedicineColumbiaUSA

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