title: 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.affiliation: Department of Pediatrics, Shiga University of Medical Science, Seta-Tsukinowa, Otsu 520-2192, Japan.
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Takano
authors.forename: Kazuto
authors.initials: K
authors.lastname: Okuno
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maruo
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takeuchi
mesh_terms: D000328:Adult; D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics*; D010290:Parents; D010375:Pedigree; D018911:Trinucleotide Repeats