A pediatric patient with sporadic dentatorubral pallidoluysian atrophy.
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.
Takano
Tomoyuki
T
Department of Pediatrics, Shiga University of Medical Science, Seta-Tsukinowa, Otsu 520-2192, Japan.
Okuno
Kazuto
K
Maruo
Yoshihiro
Y
Takeuchi
Yoshihiro
Y
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