A pediatric patient with sporadic dentatorubral pallidoluysian atrophy.

Abstract

We report a 10-year-old girl with the juvenile type of dentatorubral pallidoluysian atrophy. There were no affected family members, suggesting a sporadic case. Deoxyribonucleic acid analysis for the dentatorubral pallidoluysian atrophy gene was performed, and the CAG trinucleotide repeat numbers in this patient were 61/15. Gene analysis of the patient's parents was not performed. The molecular mechanisms of the occurrence of sporadic cases have not been clarified.

• Authors: Tomoyuki Takano, Kazuto Okuno, Yoshihiro Maruo, Yoshihiro Takeuchi
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 28 Issue 1 Pg. 72-3 (Jan 2003) ISSN: 0887-8994 [Print] United States
• PMID: 12657426 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Child
• Family Health
• Female
• Humans
• Male
• Myoclonic Epilepsies, Progressive (genetics)
• Parents
• Pedigree
• Trinucleotide Repeats