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Huntington Disease

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Abstract

Huntington disease is an autosomal dominant neurodegenerative disease characterized by abnormal movements, psychiatric symptoms, and cognitive changes. It is caused by a triple nucleotide CAG repeat expansion in the HTT gene. Huntington disease is the prototype adult neurogenetic condition, and the protocol for predictive genetic testing for this disease has become the gold standard used for genetic counseling of other neurodegenerative diseases. The clinical characteristics of the disorder and its difficult genetic counseling issues, such as anticipation, reduced penetrant alleles, and the impact of predictive testing, are presented.

Keywords

  • Huntington Disease
  • Predictive Testing
  • Predictive Genetic Testing
  • Presymptomatic Testing
  • Intermediate Allele

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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  • DOI: 10.1007/978-1-4899-7482-2_2
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Fig. 2.1

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Correspondence to Matt Bower .

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Bower, M., Tuite, P. (2015). Huntington Disease. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_2

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