| 제 2형 상염색체 우성 유전성 소뇌실조증에 합당한 임상 소견을 보인 한국인 가족들에서 유전자 검사로 확인된 SCA7의 과도한 CAG 반복 |
| 류 철형, 허 경**, 최 영철*, 이 성철***, Giovanni Stevanin****, Gilles David****, Alexis Brice****, 이 명식* |
| 영동 세브란스병원 신경과, 연세대학교 의과대학, 연세 뇌 연구소*, 부산 백병원 신경과**, 영동 세브란스병원 안과***,
INSERM U289, H pital de la Salptri re**** |
| CAG repeat expansion in the SCA7 in Korean families
presenting clinical features compatible with ADCA type II |
| Chul Hyoung Lyoo, M.D.*, Kyung Hur, M.D.**,Young Chul Choi, M.D.*, Sung Chul Lee, M.D.***,
Giovanni Stevanin, M.S.****, Gilles David, PhD****, Alexis Brice, M.D.****, Myung Sik Lee, M.D.* |
| *Department of Neurology, Yongdong Hospital, Yonsei University , Yonsei Brain Research Center, **Neurology, Pusan Paik Hospital, *** Ophthalmology, Yongdong Severance Hospital,
****INSERUM U289, H pital de la Salptri re, Paris, France |
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| Abstract |
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BACKGROUND Autosomal dominant cerebellar ataxia type II(ADCA type II) can be differentiated from other types of ADCA by visual disturbances due to pigmentary macular degeneration. Recent genetic studies repeatedly mapped the gene responsible for ADCA type II to chromosome 3p12-13(SCA7) in caucasian patients. However, in Asian patients CAG expansion at the SCA7 locus has not yet been reported. METHODS We analyzed clinical data obtained from three Korean families in which 14 members presented clinical features compatible with ADCA type II. We also performed a genetic study for 17 members (7 affected and 10 asymptomatic) from two of the three families. RESULTS All seven affected patients had abnormally increased CAG repeat numbers (range : 38-59) in SCA7. One asymptomatic 23-year-old woman had 45 CAG repeats in the SCA7. Other 9 asymptomatic family members had 10 CAG repeats in the SCA7. CONCLUSION We showed that as caucasian patients, Asian patients with ADCA type II also have abnormally increased CAG repeats at SCA7. KEY WORDS SCA7, ADCA type II, CAG repeat, macular degeneration |
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