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Review
. 2004 Jan;1(1):128-38.
doi: 10.1602/neurorx.1.1.128.

The paradigm of Huntington's disease: therapeutic opportunities in neurodegeneration

Julie Leegwater-Kim  1 , Jang-Ho J Cha
Affiliations
Review

The paradigm of Huntington's disease: therapeutic opportunities in neurodegeneration

Julie Leegwater-Kim et al. NeuroRx. 2004 Jan.

Abstract

Despite a relatively small number of affected patients, Huntington's disease (HD) has been a historically important disease, embodying many of the major themes in modern neuroscience, including molecular genetics, selective neuronal vulnerability, excitotoxicity, mitochondrial dysfunction, apoptosis, and transcriptional dysregulation. The discovery of the HD gene in 1993 opened the door to the mechanisms of HD pathogenesis. Multiple pathologic mechanisms have been discovered, each one serving as a potential therapeutic target. HD thus continues to serve as a paradigmatic disorder, with basic bench research generating clinically relevant insights and stimulating the development of therapeutic human trials.

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References

    1. Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32: 314–331, 1980. - PMC - PubMed
    1. Housman D, Gusella JF. Application of recombinant DNA techniques to neurogenetic disorders. Res Publ Assoc Res Nerv Ment Dis 60: 167–172, 1983. - PubMed
    1. Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature 306: 234–238, 1983. - PubMed
    1. Wexler NS, Rose EA, Housman DE. Molecular approaches to hereditary diseases of the nervous system: Huntington’s disease as a paradigm. Annu Rev Neurosci 14: 503–529, 1991. - PubMed
    1. Coyle JT, Schwarcz R. Lesion of striatal neurones with kainic acid provides a model for Huntington’s chorea. Nature 263: 244–246, 1976. - PubMed

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