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Tandem Repeat Polymorphisms pp 141–152Cite as

Selective Neurodegeneration, Neuropathology and Symptom Profiles in Huntington’s Disease

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB))

Abstract

Huntington’s disease (HD) is an autosomal dominant inherited neurodegenerative disease caused by a CAG repeat expansion in exon 1 of the Huntington gene (HD) also known as IT15. Despite thedisease being caused by dysfunctionofasingle gene, expressed as an expanded polyglutamine in the huntingtin protein, there is a major variability in the symptom profile of patients with Huntington’s disease as well as great variability in the neuropathology. The symptoms vary throughout the course of the disease and vary greatly between cases. These symptoms present as varying degrees of involuntary movements, mood, personality changes, cognitive changes and dementia. To determine whether there is a morphological basis for this symptom variability, recent studies have investigated the cellular andneurochemical changes in the striatum and cerebral cortex in the human brain to determine whether there is a link between the pathology in these regions and the symptomatology shown by individual cases. These studies together revealed that cases showing mainly mood symptom profiles correlatedwithmarked degeneration in the striosomal compartment of the striatum, or in the anterior cingulate gyrus of the cerebral cortex. In contrast, in cases with mainly motor symptoms neurodegeneration was especially marked in the primary motor cortex with variable degeneration in both the striosomes and matrix compartments of the striatum. These studies suggest that the variable degeneration of the striatum and cerebral cortex correlates with the variable profiles of Huntington’s disease.

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Authors and Affiliations

  1. Department of Anatomy with Radiology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand

    Henry J. Waldvogel & Richard L. M. Faull

  2. Centre for Brain Research, University of Auckland, Auckland, New Zealand

    Henry J. Waldvogel, Virginia Hogg, Lynette Tippett & Richard L. M. Faull

  3. Brain Mind Institute, Ecole Polytechnique Federale de Lausanne, Lausanne, Switzerland

    Doris Thu

  4. Department of Psychology, University of Auckland, Auckland, New Zealand

    Virginia Hogg & Lynette Tippett

Authors
  1. Henry J. Waldvogel
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  2. Doris Thu
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  3. Virginia Hogg
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  4. Lynette Tippett
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  5. Richard L. M. Faull
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Correspondence to Henry J. Waldvogel .

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Editors and Affiliations

  1. Florey Neuroscience Institutes, Melbourne Brain Centre, University of Melbourne, Parkville, Victoria, Australia

    Anthony J. Hannan Phd

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Waldvogel, H.J., Thu, D., Hogg, V., Tippett, L., Faull, R.L.M. (2012). Selective Neurodegeneration, Neuropathology and Symptom Profiles in Huntington’s Disease. In: Hannan, A.J. (eds) Tandem Repeat Polymorphisms. Advances in Experimental Medicine and Biology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-5434-2_9

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