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肾上腺脑白质营养不良:一种表现为橄榄体脑桥小脑萎缩的临床变异型。

Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy.

作者信息

Ohno T, Tsuchida H, Fukuhara N, Yuasa T, Harayama H, Tsuji S, Miyatake T

出版信息

J Neurol. 1984;231(4):167-9. doi: 10.1007/BF00313932.

DOI:10.1007/BF00313932
PMID:6096516
Abstract

A case of adrenoleukodystrophy showing neurological features of olivopontocerebellar atrophy is described. A CT scan demonstrated marked atrophy in both cerebellum and pons. ACTH stimulation produced no rise in the plasma cortisol level but a significant rise in the plasma aldosterone level. The ratios of C26:0 to C22:0 in fatty acids of sphingomyelin from erythrocyte membrane and plasma were increased.

摘要

描述了一例显示橄榄体脑桥小脑萎缩神经学特征的肾上腺脑白质营养不良病例。CT扫描显示小脑和脑桥均有明显萎缩。促肾上腺皮质激素刺激后血浆皮质醇水平未升高,但血浆醛固酮水平显著升高。红细胞膜和血浆中鞘磷脂脂肪酸的C26:0与C22:0比值升高。

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Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy.肾上腺脑白质营养不良:一种表现为橄榄体脑桥小脑萎缩的临床变异型。
J Neurol. 1984;231(4):167-9. doi: 10.1007/BF00313932.
2
[MRI and SPECT of adrenoleukodystrophy (cerebello-brainstem dominant form)--a case report].肾上腺脑白质营养不良(小脑-脑干优势型)的磁共振成像与单光子发射计算机断层扫描——病例报告
No To Shinkei. 1993 Aug;45(8):769-71.
3
Adrenoleukodystrophy with olivopontocerebellar atrophy-like lesions.伴有橄榄脑桥小脑萎缩样病变的肾上腺脑白质营养不良
Clin Neuropathol. 1986 Jan-Feb;5(1):34-9.
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Adrenoleukodystrophy without adrenal insufficiency and its magnetic resonance imaging.无肾上腺功能不全的肾上腺脑白质营养不良及其磁共振成像
J Neurol. 1985;232(5):265-70. doi: 10.1007/BF00313862.
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Adrenoleukodystrophy presenting as spinocerebellar degeneration.表现为脊髓小脑变性的肾上腺脑白质营养不良
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Ataxic variant of adrenoleukodystrophy: MRI and CT findings.肾上腺脑白质营养不良的共济失调型:MRI与CT表现
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[Case of adrenoleukodystrophy (ALD) with clinical features of olivopontocerebellar atrophy].[具有橄榄体脑桥小脑萎缩临床特征的肾上腺脑白质营养不良(ALD)病例]
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[Two adult cases of adrenoleukodystrophy with clinical features of striatonigral degeneration--a probable variant of adrenoleukodystrophy].
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Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.成人起病的以多系统萎缩为表现的X连锁肾上腺脑白质营养不良的小脑-脑干优势型:病例报告及文献复习
Neuropathology. 2016 Feb;36(1):64-76. doi: 10.1111/neup.12230. Epub 2015 Jul 31.
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A case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction.

本文引用的文献

1
Abnormality of long-chain fatty acids in erythrocyte membrane sphingomyelin from patients with adrenoleukodystrophy.肾上腺脑白质营养不良患者红细胞膜鞘磷脂中长链脂肪酸的异常。
J Neurochem. 1981 Mar;36(3):1046-9. doi: 10.1111/j.1471-4159.1981.tb01698.x.
2
Adrenoleukomyeloneuropathy presenting as spinocerebellar degeneration.表现为脊髓小脑变性的肾上腺脑白质营养不良症。
Neurology. 1982 Sep;32(9):1031-2. doi: 10.1212/wnl.32.9.1031.
3
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.肾上腺脑白质营养不良:血浆中饱和极长链脂肪酸含量增加。
一例以进行性小脑功能障碍为表现的肾上腺脑白质营养不良。
J Mov Disord. 2009 Oct;2(2):91-4. doi: 10.14802/jmd.09025. Epub 2009 Oct 30.
4
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.12名韩国肾上腺脑白质营养不良症患者的临床和遗传学特征
Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1.
5
Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.肾上腺脊髓神经病作为原发性肾上腺皮质功能不全和痉挛性截瘫的病因
CMAJ. 2004 Oct 26;171(9):1073-7. doi: 10.1503/cmaj.1032006.
6
Adrenoleukodystrophy without adrenal insufficiency and its magnetic resonance imaging.无肾上腺功能不全的肾上腺脑白质营养不良及其磁共振成像
J Neurol. 1985;232(5):265-70. doi: 10.1007/BF00313862.
7
Adrenomyeloneuropathy: report of a family and electron microscopical findings in peripheral nerve.肾上腺脑白质营养不良性神经病:一家系报告及周围神经的电镜检查结果
J Neurol. 1985;232(2):73-8. doi: 10.1007/BF00313904.
8
Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.家族性脊髓小脑变性作为肾上腺脑白质营养不良的一种表现形式。
J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1438-40. doi: 10.1136/jnnp.49.12.1438.
9
Adrenoleukodystrophy--early ultrastructural changes in the brain.
Acta Neuropathol. 1989;78(2):124-30. doi: 10.1007/BF00688199.
10
Magnetic resonance imaging in adrenoleukodystrophy presenting as spinocerebellar degeneration.表现为脊髓小脑变性的肾上腺脑白质营养不良的磁共振成像
J Neurol Neurosurg Psychiatry. 1990 Jul;53(7):623-4. doi: 10.1136/jnnp.53.7.623-a.
Neurology. 1981 Oct;31(10):1241-9. doi: 10.1212/wnl.31.10.1241.
4
Olivopontocerebellar atrophy. A review of 117 cases.橄榄体脑桥小脑萎缩。117例病例综述。
J Neurol Sci. 1982 Feb;53(2):253-72. doi: 10.1016/0022-510x(82)90011-9.
5
Adrenoleukodystrophy-cerebello-brainstem dominant case.肾上腺脑白质营养不良-小脑-脑干优势型病例。
Acta Neuropathol. 1983;60(1-2):149-52. doi: 10.1007/BF00685361.
6
The adrenoleukomyeloneuropathy complex: expression in four generations.
Neurology. 1981 Feb;31(2):151-6. doi: 10.1212/wnl.31.2.151.
7
The olivopontocerebellar atrophies: a review.橄榄体脑桥小脑萎缩:综述
Medicine (Baltimore). 1970 May;49(3):227-41. doi: 10.1097/00005792-197005000-00003.
8
The adrenal cortex in adreno-leukodystrophy.肾上腺脑白质营养不良中的肾上腺皮质。
Arch Pathol. 1973 Nov;96(5):305-10.
9
Adreno-leukodystrophy (sex-linked Schilder disease). Ultrastructural demonstration of specific cytoplasmic inclusions in the central nervous system.肾上腺脑白质营养不良(性连锁希尔德病)。中枢神经系统中特定细胞质内含物的超微结构显示。
Arch Neurol. 1974 Sep;31(3):210-3. doi: 10.1001/archneur.1974.00490390092013.
10
Fatty acid abnormality in adrenoleukodystrophy.肾上腺脑白质营养不良中的脂肪酸异常。
J Neurochem. 1976 Apr;26(4):851-60. doi: 10.1111/j.1471-4159.1976.tb04462.x.