• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

The adrenoleukomyeloneuropathy complex: expression in four generations.

作者信息

O'Neill B P, Marmion L C, Feringa E R

出版信息

Neurology. 1981 Feb;31(2):151-6. doi: 10.1212/wnl.31.2.151.

DOI:10.1212/wnl.31.2.151
PMID:6258103
Abstract

Varying combinations of leukodystrophy, myeloneuropathy, peripheral neuropathy, and primary Addison disease were identified in 14 members of four generations of a kindred of 49 persons. Of these, 26 persons from three generations were evaluated clinically. We propose that adrenoleukomyeloneuropathy (ALMN) is a rare, progressive, presumably biochemical disorder of uncertain inheritance. ALMN is expressed clinically by dysfunction of the central nervous system, peripheral nervous system, and endocrine system. We stress that suspicion of this disorder be high in evaluating uncertain neurologic disorders, and that identification of one manifestation of this complex should alert the clinician to the possibility of a different expression of the same complex in other family members.

摘要

相似文献

1
The adrenoleukomyeloneuropathy complex: expression in four generations.
Neurology. 1981 Feb;31(2):151-6. doi: 10.1212/wnl.31.2.151.
2
Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts.家族性X连锁肾上腺皮质功能减退症作为肾上腺脑白质营养不良(ALD)的一种表现:培养的皮肤成纤维细胞中C26脂肪酸升高。
Neurology. 1982 May;32(5):543-7. doi: 10.1212/wnl.32.5.543.
3
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred.肾上腺脑白质营养不良:培养的皮肤成纤维细胞中C26脂肪酸升高及其与一个家族三代疾病表现的相关性
Neurology. 1982 May;32(5):540-2. doi: 10.1212/wnl.32.5.540.
4
Corticosteroid-responsive dominantly inherited neuropathy in childhood.
Neurology. 1991 Mar;41(3):437-9. doi: 10.1212/wnl.41.3.437.
5
[Myelin diseases affecting both the central and the peripheral nervous system].[影响中枢和周围神经系统的髓鞘疾病]
Tidsskr Nor Laegeforen. 1998 Sep 30;118(23):3600-2.
6
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.GJA12基因中的移码突变导致眼球震颤、痉挛性共济失调和中枢神经系统发育异常/脱髓鞘。
Neurogenetics. 2007 Jan;8(1):39-44. doi: 10.1007/s10048-006-0062-0. Epub 2006 Sep 13.
7
[Neurofascin: a novel target for combined central and peripheral demyelination].[神经束蛋白:中枢和外周联合脱髓鞘的新靶点]
Rinsho Shinkeigaku. 2014;54(12):978-80. doi: 10.5692/clinicalneurol.54.978.
8
[Adrenomyeloneuropathy, a rare cause of primary adrenal cortex insufficiency].肾上腺脊髓神经病,原发性肾上腺皮质功能不全的罕见病因
Dtsch Med Wochenschr. 1986 Oct 3;111(40):1519-22. doi: 10.1055/s-2008-1068664.
9
Hereditary sensory neuropathy with spastic paraplegia.
Brain. 1979 Mar;102(1):79-94. doi: 10.1093/brain/102.1.79.
10
Hereditary neuronal abiotrophy in the Swedish Lapland dog.
Cornell Vet. 1973 Jan;63:Suppl 3:1-71.

引用本文的文献

1
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.极长链脂肪酸糖鞘脂在肾上腺脑白质营养不良患者的成纤维细胞中积累。
Int J Mol Sci. 2021 Aug 11;22(16):8645. doi: 10.3390/ijms22168645.
2
Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.除步态和平衡问题外:X 连锁肾上腺脑白质营养不良的尿便功能障碍。
Orphanet J Rare Dis. 2021 Jan 6;16(1):14. doi: 10.1186/s13023-020-01596-1.
3
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy.
膀胱和肠道功能障碍在患有X连锁肾上腺脑白质营养不良ABCD1基因突变的男性和女性中都很常见。
JIMD Rep. 2015;22:77-83. doi: 10.1007/8904_2015_414. Epub 2015 Mar 13.
4
X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.X连锁肾上腺脑白质营养不良:临床表现、诊断与治疗
J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):4-14. doi: 10.1136/jnnp.63.1.4.
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
Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy.肾上腺脑白质营养不良和肾上腺脊髓神经病患者的红细胞膜微粘度增加。
J Clin Invest. 1983 Jul;72(1):245-8. doi: 10.1172/jci110963.
7
Manifesting heterozygosity in sex-linked spastic paraplegia?在X连锁痉挛性截瘫中表现为杂合性?
J Neurol Neurosurg Psychiatry. 1984 Mar;47(3):311-3. doi: 10.1136/jnnp.47.3.311.
8
Adrenomyeloneuropathy. A report on two families.肾上腺脑白质营养不良症。两个家族的报告。
J Neurol. 1982;226(4):221-32. doi: 10.1007/BF00313395.
9
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.
10
Schizophreniform psychosis and adrenomyeloneuropathy.精神分裂症样精神病与肾上腺脑白质营养不良症。
J R Soc Med. 1984 Oct;77(10):882-4. doi: 10.1177/014107688407701015.