A Case of Juvenile Huntington Disease in a 6-Year-Old Boy

Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus...

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Detalles Bibliográficos
Autores principales: Sunwoo, Jun-Sang, Lee, Soon-Tae, Kim, Manho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027671/
https://www.ncbi.nlm.nih.gov/pubmed/24868381
http://dx.doi.org/10.14802/jmd.10012
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author Sunwoo, Jun-Sang
Lee, Soon-Tae
Kim, Manho
author_facet Sunwoo, Jun-Sang
Lee, Soon-Tae
Kim, Manho
author_sort Sunwoo, Jun-Sang
collection PubMed
description Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis.
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spelling pubmed-40276712014-05-27 A Case of Juvenile Huntington Disease in a 6-Year-Old Boy Sunwoo, Jun-Sang Lee, Soon-Tae Kim, Manho J Mov Disord Case Report Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the gene IT15 in locus 4p16.3. Juvenile HD that constitutes about 3% to 10% of all patients is clinically different from adult-onset form and characterized by a larger number of CAG repeats typically exceeding 60. We report a case of a 6-year-old boy with myoclonic seizure and 140 CAG repeats confirmed by molecular genetic analysis. The Korean Movement Disorder Society 2010-10 2010-10-30 /pmc/articles/PMC4027671/ /pubmed/24868381 http://dx.doi.org/10.14802/jmd.10012 Text en Copyright © 2010 The Korean Movement Disorder Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Sunwoo, Jun-Sang
Lee, Soon-Tae
Kim, Manho
A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
title A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
title_full A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
title_fullStr A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
title_full_unstemmed A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
title_short A Case of Juvenile Huntington Disease in a 6-Year-Old Boy
title_sort case of juvenile huntington disease in a 6-year-old boy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027671/
https://www.ncbi.nlm.nih.gov/pubmed/24868381
http://dx.doi.org/10.14802/jmd.10012
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