• 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

与6号染色体长臂相关的青少年帕金森病的病理和生化研究。

Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.

作者信息

Mori H, Kondo T, Yokochi M, Matsumine H, Nakagawa-Hattori Y, Miyake T, Suda K, Mizuno Y

机构信息

Department of Neurology, School of Medicine, Juntendo University, Tokyo, Japan.

出版信息

Neurology. 1998 Sep;51(3):890-2. doi: 10.1212/wnl.51.3.890.

DOI:10.1212/wnl.51.3.890
PMID:9748052
Abstract

We report the results of pathologic and biochemical studies in a patient with 6q-linked autosomal recessive juvenile parkinsonism (AR-JP). Neuronal loss and gliosis were restricted to the substantia nigra and the locus ceruleus. No Lewy bodies were found, but neurofibrillary tangles and argyrophilic astrocytes were seen in the cerebral cortex and brainstem nuclei. The later findings, which have not been reported previously in AR-JP, suggest the pathologic heterogeneity of 6q-linked AR-JP.

摘要

我们报告了一名患有6号染色体连锁常染色体隐性少年帕金森病(AR-JP)患者的病理和生化研究结果。神经元丢失和胶质细胞增生仅限于黑质和蓝斑。未发现路易小体,但在大脑皮层和脑干核中可见神经原纤维缠结和嗜银性星形胶质细胞。这些先前在AR-JP中未被报道的后期发现提示了6号染色体连锁AR-JP的病理异质性。

相似文献

1
Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.与6号染色体长臂相关的青少年帕金森病的病理和生化研究。
Neurology. 1998 Sep;51(3):890-2. doi: 10.1212/wnl.51.3.890.
2
A loss-of-function mechanism of nigral neuron death without Lewy body formation: autosomal recessive juvenile parkinsonism (AR-JP).一种无路易小体形成的黑质神经元死亡的功能丧失机制:常染色体隐性遗传性青少年帕金森病(AR-JP)。
J Neurol. 1998 Nov;245(11 Suppl 3):P10-4. doi: 10.1007/pl00007741.
3
An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene.一例常染色体隐性青少年帕金森病尸检病例,其帕金基因第4外显子存在纯合缺失。
Mov Disord. 2000 Sep;15(5):884-8. doi: 10.1002/1531-8257(200009)15:5<884::aid-mds1019>3.0.co;2-8.
4
Restricted occurrence of Lewy bodies in the dorsal vagal nucleus in a patient with late-onset parkinsonism.迟发性帕金森病患者迷走神经背核中路易小体的局限性出现。
J Neurol Sci. 1999 Jun 1;165(2):188-91. doi: 10.1016/s0022-510x(99)00101-x.
5
Juvenile parkinsonism--some clinical, pharmacological, and neuropathological aspects.青少年帕金森病——一些临床、药理学及神经病理学方面的情况
Adv Neurol. 1984;40:407-13.
6
Familial juvenile parkinsonism: clinical and pathologic study in a family.家族性青少年帕金森病:一个家族的临床与病理学研究
Neurology. 1994 Mar;44(3 Pt 1):437-41. doi: 10.1212/wnl.44.3_part_1.437.
7
Parkinsonism and neurofibrillary tangle pathology in pigmented nuclei.色素核中的帕金森综合征与神经原纤维缠结病理改变
Ann Neurol. 1989 Jun;25(6):602-6. doi: 10.1002/ana.410250612.
8
Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study.突尼斯一个家族中与帕金基因相关的常染色体隐性帕金森病。临床、遗传及病理学研究。
Parkinsonism Relat Disord. 2003 Jun;9(5):247-51. doi: 10.1016/s1353-8020(03)00016-6.
9
[A 62-year-old man with familial parkinsonism with the onset at 24 years of the age].一名62岁男性,患有家族性帕金森病,发病于24岁。
No To Shinkei. 1996 Jun;48(6):587-97.
10
Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q.与6号染色体长臂相关的青少年帕金森病的病理和生化研究
Neurology. 1999 Oct 12;53(6):1375. doi: 10.1212/wnl.53.6.1375.

引用本文的文献

1
Role of Cellular Senescence in Parkinson's Disease: Potential for Disease-Modification Through Senotherapy.细胞衰老在帕金森病中的作用:通过衰老疗法进行疾病修饰的潜力。
Biomedicines. 2025 Jun 7;13(6):1400. doi: 10.3390/biomedicines13061400.
2
Deficiency of parkin causes neurodegeneration and accumulation of pathological α-synuclein in monkey models.缺乏 parkin 会导致猴模型中的神经退行性变和病理性 α-突触核蛋白的积累。
J Clin Invest. 2024 Oct 15;134(20):e179633. doi: 10.1172/JCI179633.
3
Targets to Search for New Pharmacological Treatment in Idiopathic Parkinson's Disease According to the Single-Neuron Degeneration Model.
根据单神经元退化模型寻找特发性帕金森病新的药物治疗靶点。
Biomolecules. 2024 Jun 8;14(6):673. doi: 10.3390/biom14060673.
4
PRKN-linked familial Parkinson's disease: cellular and molecular mechanisms of disease-linked variants.PRKN 相关家族性帕金森病:疾病相关变异的细胞和分子机制。
Cell Mol Life Sci. 2024 May 20;81(1):223. doi: 10.1007/s00018-024-05262-8.
5
The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.结构变异在帕金森病遗传结构中的作用。
Int J Mol Sci. 2024 Apr 27;25(9):4801. doi: 10.3390/ijms25094801.
6
Is There a Place for Lewy Bodies before and beyond Alpha-Synuclein Accumulation? Provocative Issues in Need of Solid Explanations.路易体在α-突触核蛋白聚集之前和之后是否有存在的空间?需要确凿解释的有争议问题。
Int J Mol Sci. 2024 Apr 1;25(7):3929. doi: 10.3390/ijms25073929.
7
Pathogenesis of Parkinson's disease: from hints from monogenic familial PD to biomarkers.帕金森病的发病机制:从单基因家族性帕金森病的线索到生物标志物。
J Neural Transm (Vienna). 2024 Jun;131(6):709-719. doi: 10.1007/s00702-024-02747-5. Epub 2024 Mar 13.
8
A new metabolic model of and the integrative analysis of Parkinson's disease.帕金森病的新代谢模型与综合分析。
Life Sci Alliance. 2023 May 26;6(8). doi: 10.26508/lsa.202201695. Print 2023 Aug.
9
Parkin coregulates glutathione metabolism in adult mammalian brain.Parkin 调控成年哺乳动物大脑中的谷胱甘肽代谢。
Acta Neuropathol Commun. 2023 Jan 23;11(1):19. doi: 10.1186/s40478-022-01488-4.
10
Involvement of heat shock proteins and parkin/α-synuclein axis in Parkinson's disease.热休克蛋白与帕金森病中 parkin/α-突触核蛋白轴的关系。
Mol Biol Rep. 2022 Nov;49(11):11061-11070. doi: 10.1007/s11033-022-07900-5. Epub 2022 Sep 12.