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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Korean Movement Disorder Society
2010-10-01
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| Series: | Journal of Movement Disorders |
| Subjects: | |
| Online Access: | http://e-jmd.org/upload/jmd-3-2-45-5.pdf |
| _version_ | 1797715956466712576 |
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| author | Jun-Sang Sunwoo Soon-Tae Lee Manho Kim |
| author_facet | Jun-Sang Sunwoo Soon-Tae Lee Manho Kim |
| author_sort | Jun-Sang Sunwoo |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-12T08:14:29Z |
| format | Article |
| id | doaj.art-03b616f7b8464641a505ba6f4158b810 |
| institution | Directory Open Access Journal |
| issn | 2005-940X 2093-4939 |
| language | English |
| last_indexed | 2024-03-12T08:14:29Z |
| publishDate | 2010-10-01 |
| publisher | Korean Movement Disorder Society |
| record_format | Article |
| series | Journal of Movement Disorders |
| spelling | doaj.art-03b616f7b8464641a505ba6f4158b8102023-09-02T18:56:17ZengKorean Movement Disorder SocietyJournal of Movement Disorders2005-940X2093-49392010-10-0132454710.14802/jmd.1001244A Case of Juvenile Huntington Disease in a 6-Year-Old BoyJun-Sang SunwooSoon-Tae LeeManho KimHuntington 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.http://e-jmd.org/upload/jmd-3-2-45-5.pdfJuvenile Huntington diseaseSeizureTrinucleotide repeat expansions |
| spellingShingle | Jun-Sang Sunwoo Soon-Tae Lee Manho Kim A Case of Juvenile Huntington Disease in a 6-Year-Old Boy Journal of Movement Disorders Juvenile Huntington disease Seizure Trinucleotide repeat expansions |
| 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 | Juvenile Huntington disease Seizure Trinucleotide repeat expansions |
| url | http://e-jmd.org/upload/jmd-3-2-45-5.pdf |
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