Pediatric Neurology
Volume 28, Issue 1 , Pages 72-73, January 2003

A pediatric patient with sporadic dentatorubral pallidoluysian atrophy

  • Tomoyuki Takano, MD

      Affiliations

    • Department of Pediatrics, Shiga University of Medical Science, Seta-Tsukinowa, Otsu 520-2192, Japan
    • Corresponding Author InformationCommunications should be addressed to: Dr. Takano; Department of Pediatrics; Shiga University of Medical Science; Seta-Tsukinowa; Otsu 520-2192, Japan.
  • ,
  • Kazuto Okuno, MD

      Affiliations

    • Department of Pediatrics, Shiga University of Medical Science, Seta-Tsukinowa, Otsu 520-2192, Japan
  • ,
  • Yoshihiro Maruo, MD

      Affiliations

    • Department of Pediatrics, Shiga University of Medical Science, Seta-Tsukinowa, Otsu 520-2192, Japan
  • ,
  • Yoshihiro Takeuchi, MD

      Affiliations

    • Department of Pediatrics, Shiga University of Medical Science, Seta-Tsukinowa, Otsu 520-2192, Japan

Received 28 May 2002; accepted 24 July 2002.

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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PII: S0887-8994(02)00496-4

doi:10.1016/S0887-8994(02)00496-4

Pediatric Neurology
Volume 28, Issue 1 , Pages 72-73, January 2003