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New Perspectives on the Neuropathology in Huntington's Disease in the Human Brain and its Relation to Symptom Variation

Article type: Review Article

Authors: Waldvogel, Henry J.; | Kim, Eric H.; | Thu, Doris C.V. | Tippett, Lynette J. | Faull, Richard L.M.;

Affiliations: Faculty of Medical and Health Sciences, Department of Anatomy and Radiology, University of Auckland, Auckland, New Zealand | Centre for Brain Research, University of Auckland, Auckland, New Zealand | Brain Mind Institute, École Polytechnique Fédérale de Lausanne, Switzerland | Department of Psychology, University of Auckland, Auckland, New Zealand

Note: [] Correspondence to: Richard L.M. Faull, Faculty of Medical and Health Sciences, Department of Anatomy and Radiology, University of Auckland, Private Bag 92019, Auckland, New Zealand. Tel.: +64 9 9236708; E-mail: [email protected]

Keywords: Huntington's disease, human brain, pathology, symptoms, cortex, basal ganglia

DOI: 10.3233/JHD-2012-120018

Journal: Journal of Huntington's Disease, vol. 1, no. 2, pp. 143-153, 2012

Published: 2012
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Abstract

We review recent investigations regarding the relationship between selective neurodegeneration in the human brain and the variability in symptom profiles in Huntington's disease. Huntington's disease is a genetic neurodegenerative disorder caused by an expanded CAG repeat in exon 1 of the Huntingtin gene on chromosome 4, encoding a protein called huntingtin. The huntingtin protein is expressed ubiquitously in somatic tissue, however, the major pathology affects the brain with profound degeneration in the striatum and the cerebral cortex. Despite the disease being caused by a single gene, there is a major variability in the neuropathology, as well as major heterogeneity in the symptom profiles observed in Huntington's disease patients. The symptoms may vary throughout the disease course and present as varying degrees of movement disorder, cognitive decline, and mood and behavioral changes. To determine whether there is an anatomical basis underlying symptom variation, recent studies on the post-mortem human brain have shown a relationship between the variable degeneration in the forebrain and the variable symptom profile. In this review, we will summarize the progress relating cell loss in the striatum and cerebral cortex to symptom profile in Huntington's disease.

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