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Huntington disease: Clinical features and diagnosis

Oksana Suchowersky, MD, FRCPC, FCCMG
Section Editor
Howard I Hurtig, MD
Deputy Editor
John F Dashe, MD, PhD


Huntington disease (HD) is an inherited progressive neurodegenerative disorder characterized by choreiform movements, psychiatric problems, and dementia. It is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4p and inherited in an autosomal-dominant pattern [1]. The pathophysiology of HD is not fully understood, although it is thought to be related to toxicity of the mutant huntingtin protein.

As there is no known cure, treatment is symptomatic and remains supportive. Genetic mouse models are expanding our understanding of the disease and may lead to disease modifying therapy in the future.

This topic will review the clinical features and diagnosis of HD. Other aspects of HD are discussed separately. (See "Huntington disease: Genetics and pathogenesis" and "Huntington disease: Management".)


The genetics and pathogenesis of HD are reviewed here briefly and discussed in detail separately. (See "Huntington disease: Genetics and pathogenesis".)

Huntington disease is an autosomal dominant disorder caused by an expansion of the CAG trinucleotide in the huntingtin gene (also known as the HD gene) that encodes the protein huntingtin, resulting in an expanded polyglutamine tract. Huntingtin is present in a large number of tissues throughout the body. However, pathology mainly involves the central nervous system, with atrophy of the caudate and putamen (the neostriatum) being most prominent. At the cellular level, protein aggregates are seen both in the cytoplasm and nucleus. The pathophysiology of neuron loss is incompletely understood. The huntingtin protein is thought to become toxic with the CAG expansion ("gain of function") but continues to serve a function that is critical to survival in early development.

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Literature review current through: Nov 2017. | This topic last updated: Oct 19, 2016.
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