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: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Movement Disorder Society
2010-10-01
|
| Series: | Journal of Movement Disorders |
| Subjects: | |
| Online Access: | http://e-jmd.org/upload/jmd-3-2-45-5.pdf |
| Summary: | 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. |
|---|---|
| ISSN: | 2005-940X 2093-4939 |