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
- 1,157 - 1,160 (4page)
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초록· 키워드
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X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression,but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonanceimaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellardegeneration symptoms.
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등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Dunne E / 1999 / A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration / Ann Neurol 45 : 652 ~ 655
Elenein RA / 2013 / Teaching neuroimages: cerebral adrenoleukodystrophy: a rare adult form / Neurology 80 : e69 ~ e70
Kemp S / 2012 / X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects / Biochim Biophys Acta 1822 : 1465 ~ 1474
Kurihara K / 1991 / A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI / Rinsho Shinkeigaku 31 : 72
Kusaka H / 1992 / Ataxic variant of adrenoleukodystrophy: MRI and CT findings / J Neurol 239 : 307 ~ 310
Elenein RA / 2013 / Teaching neuroimages: cerebral adrenoleukodystrophy: a rare adult form / Neurology 80 : e69 ~ e70
Kemp S / 2012 / X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects / Biochim Biophys Acta 1822 : 1465 ~ 1474
Kurihara K / 1991 / A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI / Rinsho Shinkeigaku 31 : 72
Kusaka H / 1992 / Ataxic variant of adrenoleukodystrophy: MRI and CT findings / J Neurol 239 : 307 ~ 310
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