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JYMS : Journal of Yeungnam Medical Science

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1 "CAG trinucleotide repeat"
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Case Report
A Family of Dentatorubropallidoluysian Atrophy.
Ji Yoon Chung, Mee Young Park, Jun Lee, Jun Pil Yoon, Hyun Jung Park
Yeungnam Univ J Med. 2006;23(1):118-123.   Published online June 30, 2006
DOI: https://doi.org/10.12701/yujm.2006.23.1.118
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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.

JYMS : Journal of Yeungnam Medical Science
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