• 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

Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms.

作者信息

Klemm E, Conzelmann E

机构信息

Department of Neurology, University of Bonn, Federal Republic of Germany.

出版信息

J Neurol. 1989 Oct;236(7):427-9. doi: 10.1007/BF00314905.

DOI:10.1007/BF00314905
PMID:2809646
Abstract

A 24-year-old man presented with a spastic and ataxic condition resembling chronic-progressive multiple sclerosis. Radiological examination revealed symmetrical diffuse paraventricular demyelination. Electrophysiological findings suggested additional involvement of the brain stem and the peripheral nervous system. The diagnosis of adult-onset metachromatic leucodystrophy was confirmed by biochemical and ultrastructural examination. In contrast to almost all adult cases reported so far, psychiatric symptoms were not present.

摘要

相似文献

1
Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms.
J Neurol. 1989 Oct;236(7):427-9. doi: 10.1007/BF00314905.
2
Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.电生理研究检测到的周围神经病变作为婴儿期异染性脑白质营养不良的首发表现。
J Neurol Neurosurg Psychiatry. 1975 Feb;38(2):169-74. doi: 10.1136/jnnp.38.2.169.
3
[Neuropathy in adult metachromatic leukodystrophy].[成人异染性脑白质营养不良中的神经病变]
Ugeskr Laeger. 1994 Apr 11;156(15):2252-3.
4
Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family.
Acta Neurol Scand. 2002 Jun;105(6):454-7. doi: 10.1034/j.1600-0404.2002.01257.x.
5
[Metachromatic leukodystrophy in adult patient initially diagnosed as multiple sclerosis].
Neurol Neurochir Pol. 2002 Nov-Dec;36(6):1209-19.
6
Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy.
Neurology. 1992 Jul;42(7):1396-8. doi: 10.1212/wnl.42.7.1396.
7
Adult metachromatic leukodystrophy. Value of computed tomographic scanning and magnetic resonance imaging of the brain.成人异染性脑白质营养不良。脑部计算机断层扫描和磁共振成像的价值。
Arch Neurol. 1987 Feb;44(2):225-7. doi: 10.1001/archneur.1987.00520140083022.
8
Computed tomography (CT) in late infantile metachromatic leucodystrophy.
Acta Neurol Scand. 1989 Jan;79(1):23-6. doi: 10.1111/j.1600-0404.1989.tb03704.x.
9
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
Ann Neurol. 2001 Jul;50(1):108-12.
10
Four cases of late onset metachromatic leucodystrophy in a family: clinical, biochemical and neuropathological studies.一个家族中的4例迟发性异染性脑白质营养不良：临床、生化及神经病理学研究
J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1417-22. doi: 10.1136/jnnp.49.12.1417.

引用本文的文献

1
Case Report: Novel Arylsulfatase A () Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis.病例报告：一名成年起病的异染性脑白质营养不良患者被误诊为多发性硬化症，其新型芳基硫酸酯酶A（）基因突变
Front Neurol. 2021 Jan 11;11:576881. doi: 10.3389/fneur.2020.576881. eCollection 2020.
2
Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.异染性脑白质营养不良：一例三胞胎患晚发性婴儿型变异型病例及文献系统综述
J Child Neurol. 2010 May;25(5):572-80. doi: 10.1177/0883073809341669. Epub 2009 Dec 28.
3
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.

本文引用的文献

1
Computed tomography in late-onset metachromatic leucodystrophy.迟发性异染性脑白质营养不良的计算机断层扫描
Neuroradiology. 1984;26(1):39-44. doi: 10.1007/BF00328202.
2
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.模拟慢性进行性多发性硬化症的遗传性成人起病脑白质营养不良
N Engl J Med. 1984 Oct 11;311(15):948-53. doi: 10.1056/NEJM198410113111504.
3
Partial enzyme deficiencies: residual activities and the development of neurological disorders.部分酶缺乏症：残余活性与神经障碍的发展
不同程度芳基硫酸酯酶A缺乏症的基因型与表型关系
Hum Genet. 1991 Mar;86(5):463-70. doi: 10.1007/BF00194634.
Dev Neurosci. 1983;6(1):58-71. doi: 10.1159/000112332.
4
Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis.异染性脑白质营养不良（MLD）。8. 成人MLD；诊断与发病机制。
Arch Neurol. 1968 Mar;18(3):225-40. doi: 10.1001/archneur.1968.00470330015001.
5
Studies on adult metachromatic leukodystrophy. 1. Clinical, morphological and histochemical observations in two cases.
J Neurol Sci. 1969 Nov-Dec;9(3):567-84. doi: 10.1016/0022-510x(69)90095-1.
6
Assay for cerebroside sulfate (sulfatide) sulfatase in cultured skin fibroblasts with the natural activator protein.
Clin Chim Acta. 1987 Sep 15;168(1):55-68. doi: 10.1016/0009-8981(87)90266-x.