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Molecular Pathology in Clinical Practice pp 179–189Cite as

Neurodegenerative Disorders

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Abstract

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder clinically characterized by the presence of choreiform movements, psychiatric sequelae, and dementia. While the majority (>90%) of HD patients become clinically symptomatic in adulthood, 5% to 10% of patients present with the juvenile-onset form of the disease, which is almost invariably associated with inheritance of the mutant allele from a symptomatic father. Unlike the adult-onset form of the disease, juvenile HD is generally characterized by the presence of progressive rigidity, seizures, ataxia, and dystonia.

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Author information

Authors and Affiliations

  1. Molecular Diagnostics, Molecular Pathology Laboratory Network, Inc, Maryville, TN, 38704, USA

    Nicholas T. Potter PhD (Director)

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  1. Nicholas T. Potter PhD
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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA

    Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)

  2. Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Adam Bagg MD (Director) (Director)

  3. Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA

    Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)

  4. Northwestern University Feinberg School of Medicine, Evanston, IL, 60201

    Karen L. Kaul MD, PhD (Professor) (Professor)

  5. Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA

    Karen L. Kaul MD, PhD (Professor) (Professor)

  6. Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA

    Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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Potter, N.T. (2007). Neurodegenerative Disorders. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_15

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  • DOI: https://doi.org/10.1007/978-0-387-33227-7_15

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-33226-0

  • Online ISBN: 978-0-387-33227-7

  • eBook Packages: MedicineMedicine (R0)

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