지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 676 - 682 (7page)
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초록· 키워드
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Purpose: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy(AMN) patients. Materials and Methods: We retrospectivelyselected 12 Korean AMN patients diagnosed by clinical analysis and increasedplasma content of very long chain fatty acids. Results: All 12 patients were men. Patient ages at symptom onset ranged from 18 to 55 years. Family historywas positive in two patients. The phenotype distributions consisted of AMN without cerebral involvement in seven patients, AMN with cerebral involvement in two patients, and the spinocerebellar phenotype in three patients. Nerve conductionstudies revealed abnormalities in four patients and visual evoked tests revealedabnormalities in three patients. Somatosensory evoked potential tests revealedcentral conduction defects in all of the tested patients. Spinal MRI showed diffuse cord atrophy or subtle signal changes in all 12 patients. Brain MRI findings were abnormal in six of the nine tested patients. These brain abnormalities reflectedthe clinical phenotypes. Mutational analysis identified nine different ABCD1 mutations in 10 of 11 tested patients. Among them, nine have been previously reportedand shown to be associated with various phenotypes; one was a novel mutation. Conclusion: In conclusion, the present study is the first to report on the clinical and mutational spectrum of Korean AMN patients, and confirms various clinical presentations and the usefulness of brain MRI scan.
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참고문헌 (26)
참고문헌 신청
Boehm CD / 1999 / Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy / Mol Genet Metab 66 : 128 ~ 136
Chaudhry V / 1996 / Nerve conduction studies in adrenomyeloneuropathy / J Neurol Neurosurg Psychiatry 61 : 181 ~ 185
Engelen M / 2012 / X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management / Orphanet J Rare Dis 7 : 51 ~
Jeong JP / 2001 / A case of adrenomyeloneuropathy / J Korean Neurol Assoc 19 : 431 ~ 434
Kemp S / 2001 / ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations / Hum Mutat 18 : 499 ~ 515
Chaudhry V / 1996 / Nerve conduction studies in adrenomyeloneuropathy / J Neurol Neurosurg Psychiatry 61 : 181 ~ 185
Engelen M / 2012 / X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management / Orphanet J Rare Dis 7 : 51 ~
Jeong JP / 2001 / A case of adrenomyeloneuropathy / J Korean Neurol Assoc 19 : 431 ~ 434
Kemp S / 2001 / ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations / Hum Mutat 18 : 499 ~ 515
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