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March 12, 2013; 80 (11) Article

The challenge of juvenile Huntington disease

To test or not to test

Georgios Koutsis, Georgia Karadima, Athina Kladi, Marios Panas
First published February 6, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31828727fa
Georgios Koutsis
From the Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.
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Georgia Karadima
From the Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.
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Athina Kladi
From the Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.
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Marios Panas
From the Neurogenetics Unit, 1st Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece.
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Citation
The challenge of juvenile Huntington disease
To test or not to test
Georgios Koutsis, Georgia Karadima, Athina Kladi, Marios Panas
Neurology Mar 2013, 80 (11) 990-996; DOI: 10.1212/WNL.0b013e31828727fa

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Abstract

Objective: In a cohort of patients with suspected juvenile-onset Huntington disease (HD), we compared HD expansion-positive and -negative cases in order to identify parameters that may allow differentiating between them and may act as a guide to clinicians contemplating genetic testing.

Methods: We analyzed the clinical and genetic characteristics of 76 juvenile-onset patients referred consecutively for HD genetic testing over a 16-year period.

Results: In total, 24 patients were positive for the HD expansion (7.8% of our HD cohort). Mean age at onset of expanded cases was similar to unexpanded cases. All expanded cases had a family history of genetically confirmed HD compared to only 13.5% of unexpanded cases (p = 0.000). Clinical symptoms at onset or at presentation could not differentiate between expanded and unexpanded patients. Although criteria suggested by previous reports allowed statistical differentiation between the 2 groups, they were not sufficiently sensitive and specific to be used in clinical context and performed less satisfactorily than presence of a family history of HD alone.

Conclusions: A diagnosis of juvenile HD should be primarily contemplated in symptomatic children with a family history of HD, although a proportion of these will test negative. With no family history of HD, juvenile HD is very unlikely and genetic testing should never delay searching for other causes. The specific nature of symptoms at onset or at presentation is of limited value in guiding the decision to test or not to test.

GLOSSARY

HD=
Huntington disease;
JHD=
juvenile Huntington disease

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Editorial, page 976

  • Supplemental data at www.neurology.org

  • Received July 17, 2012.
  • Accepted October 11, 2012.
  • © 2013 American Academy of Neurology
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