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.

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