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.
Ah Young Leem, Won Jai Jung, Young Ae Kang, Seon Cheol Park, Young Jae Kim, Eu Dong Hwang, Eun Young Kim, Kyung Soo Jung, Moo Suk Park, Song Yee Kim, Young Sam Kim, Se Kyu Kim, Joon Chang, Ji Ye Jung
Taek Kyu Park, Jeong Hoon Yang, Seung-Hyuk Choi, Young Bin Song, Joo-Yong Hahn, Jin-Ho Choi, Kiick Sung, Young Tak Lee, Hyeon-Cheol Gwon, Sang Hoon Lee
X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
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Moser HW, Moser AB, Smith KD, Bergin A, Borel J, Shankroff J, et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 1992;15:645-64.
미소장
3
Kusaka H, Imai T. Ataxic variant of adrenoleukodystrophy: MRI and CT findings. J Neurol 1992;239:307-10.
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4
A novel point mutation in X‐linked adrenoleukodystrophy presenting as a spinocerebellar degeneration
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Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.
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Adrenoleukodystrophy presenting as spinocerebellar degeneration.
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7
Takada K, Onoda K, Takahashi K, Nakamura H, Taketomi T. An adult case of adrenoleukodystrophy with features of olivo-ponto-cerebellar atrophy: I. Clinical and pathological studies. Jpn J Exp Med 1987;57:53-8.
X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.
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Natural history of X-linked adrenoleukodystrophy in Japan.
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Kurihara K, Kim H, Tamura N, Iwasaki S, Hamaguchi K. [A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI]. Rinsho Shinkeigaku 1991;31:72-8.
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Magnetic resonance imaging in adrenoleukodystrophy presenting as spinocerebellar degeneration.
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MRI of adrenoleukodystrophy involving predominantly the cerebellum and brain stem.
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Adrenoleukodystrophy manifesting as spinocerebellar degeneration.
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Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy.
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Teaching NeuroImages: Subdural hematoma with pseudo-intracranial hypertension.
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한국학술지인용색인(NRF)
