Journal of Yeungnam Medical Science

Yeungnam University College of Medicine, Yeungnam University Institute Medical Science (영남대 의대 학술지 편집위원회)
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A Family of Dentatorubropallidoluysian Atrophy

Dentatorubropallidoluysian Atrophy 일가족

  • Chung, Ji-Yoon (Department of Neurology, College of Medicine, Yeungnam University) ;
  • Park, Mee-Young (Department of Neurology, College of Medicine, Yeungnam University) ;
  • Lee, Jun (Department of Neurology, College of Medicine, Yeungnam University) ;
  • Yoon, Jun-Pil (Department of Neurology, College of Medicine, Yeungnam University) ;
  • Park, Hyun-Jung (Department of Neurology, College of Medicine, Yeungnam University)
  • 정지윤 (영남대학교 의과대학 신경과학교실) ;
  • 박미영 (영남대학교 의과대학 신경과학교실) ;
  • 이준 (영남대학교 의과대학 신경과학교실) ;
  • 윤준필 (영남대학교 의과대학 신경과학교실) ;
  • 박현정 (영남대학교 의과대학 신경과학교실)
  • Published : 2006.06.30
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Abstract

Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12p. We evaluated a family with DRPLA that affected three members; A 35-year-old female presented with seven year history of gait ataxia, dysarthria and mild cognitive impairment. The MRI of the brain revealed diffuse cerebellar atrophy with an incidental lipoma in the midbrain. Her 30-year-old brother presented with progressive cerebellar ataxia that developed at the age of 20. Her grandmother and mother were reported to have developed ataxia during the late period of their life, and died at the age of 60 and 55, respectively. The demonstration of an expanded CAG repeat in the gene for DRPLA was used to confirm the diagnosis.

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