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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 993 - 997 (5page)
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초록· 키워드
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Purpose: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neurondisease characterized by proximal muscle weakness, muscle atrophy, and fasciculation.
Although SBMA is not uncommon in Korea, there is only one study reportingclinical characteristics and genotype-phenotype correlation in Korean patients. Materials and Methods: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. Results: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlationwith the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. Conclusion: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation betweenthe age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.
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참고문헌 (16)
참고문헌 신청
Atsuta N / 2006 / Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients / Brain 129 (Pt 6) : 1446 ~ 1455
Fratta P / 2014 / Correlation of clinical and molecular features in spinal bulbar muscular atrophy / Neurology 82 : 2077 ~ 2084
Fu SC / 2013 / Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan / J Formos Med Assoc 112 : 326 ~ 331
Greenland KJ / 2004 / Kennedy’s disease: pathogenesis and clinical approaches / Intern Med J 34 : 279 ~ 286
Karaer H / 2010 / Phenotypic differences in a large family with Kennedy’s disease from the Middle Black Sea region of Turkey / Amyotroph Lateral Scler 11 : 148 ~ 153
Fratta P / 2014 / Correlation of clinical and molecular features in spinal bulbar muscular atrophy / Neurology 82 : 2077 ~ 2084
Fu SC / 2013 / Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan / J Formos Med Assoc 112 : 326 ~ 331
Greenland KJ / 2004 / Kennedy’s disease: pathogenesis and clinical approaches / Intern Med J 34 : 279 ~ 286
Karaer H / 2010 / Phenotypic differences in a large family with Kennedy’s disease from the Middle Black Sea region of Turkey / Amyotroph Lateral Scler 11 : 148 ~ 153
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