热休克蛋白60是遗传性痉挛性截瘫的罕见病因，但可能作为一种基因修饰因子。 - Suppr

Suppr

超能文献

HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.

作者信息

Hewamadduma C A A, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott C J, Shaw P J

机构信息

Academic Neurology Unit, Medical School, Beech Hill Road, University of Sheffield, S10 2RX, UK.

出版信息

Neurology. 2008 May 6;70(19):1717-8. doi: 10.1212/01.wnl.0000311395.31081.70.

DOI:10.1212/01.wnl.0000311395.31081.70

PMID:18458233

Abstract

摘要

相似文献

HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.热休克蛋白60是遗传性痉挛性截瘫的罕见病因，但可能作为一种基因修饰因子。

Neurology. 2008 May 6;70(19):1717-8. doi: 10.1212/01.wnl.0000311395.31081.70.

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.包括SPG4遗传性痉挛性截瘫基因内修饰因子在内的N端错义变体导致痉挛素稳定性的异构体特异性增加。

Eur J Neurol. 2007 Dec;14(12):1322-8. doi: 10.1111/j.1468-1331.2007.01971.x. Epub 2007 Oct 3.

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.保加利亚遗传性痉挛性截瘫患者的痉挛蛋白基因突变

Clin Genet. 2006 Dec;70(6):490-5. doi: 10.1111/j.1399-0004.2006.00705.x.

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.SPG4遗传性痉挛性截瘫中的痴呆：临床、遗传和神经病理学证据。

Neurology. 2009 Aug 4;73(5):378-84. doi: 10.1212/WNL.0b013e3181b04c6c.

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.由于痉挛蛋白基因的共显性突变导致的婴儿遗传性痉挛性截瘫。

Neurology. 2004 Aug 24;63(4):710-2. doi: 10.1212/01.wnl.0000135346.63675.3e.

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.德国常染色体显性遗传性痉挛性截瘫患者痉挛蛋白基因（SPG4）的突变分析

Hum Mutat. 2002 Aug;20(2):127-32. doi: 10.1002/humu.10105.

A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia.一个新的剪接突变（c.870+3A>G）在 SPG4 中与遗传性痉挛性截瘫的一个韩国家族有关。

J Neurol Sci. 2010 Mar 15;290(1-2):186-9. doi: 10.1016/j.jns.2009.10.016. Epub 2009 Nov 25.

Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.与SPG4位点相关的常染色体显性（AD）纯合性痉挛性截瘫（HSP）在一个大家系中几乎只影响男性。

J Med Genet. 2002 Dec;39(12):e77. doi: 10.1136/jmg.39.12.e77.

Spastin gene mutation in Japanese with hereditary spastic paraplegia.日本遗传性痉挛性截瘫患者的痉挛素基因突变

J Med Genet. 2002 Aug;39(8):e46. doi: 10.1136/jmg.39.8.e46.

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.遗传性痉挛性截瘫4型（SPG4）的运动系统异常取决于痉挛蛋白基因的突变类型。

J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1109-12. doi: 10.1136/jnnp.74.8.1109.

引用本文的文献

Independent occurrence of de novo and variants in brothers with different neurological disorders - leukodystrophy and autism.患有不同神经系统疾病（脑白质营养不良和自闭症）的兄弟中从头发生的和变异的独立出现情况。

Hum Genome Var. 2018 Jul 19;5:18. doi: 10.1038/s41439-018-0020-z. eCollection 2018.

Movement disorders: Are umbrella terms for rare genetic diseases still useful?运动障碍：罕见遗传病的统称仍然有用吗？

Nat Rev Neurol. 2016 Jun;12(6):321-2. doi: 10.1038/nrneurol.2016.50. Epub 2016 Apr 15.

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.新型 SPAST 缺失及 DPY30 表达降低与痉挛性截瘫 4 型家系相关。

BMC Med Genet. 2014 Apr 1;15:39. doi: 10.1186/1471-2350-15-39.

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.三个遗传性痉挛性截瘫患者中外显子最后区域的 Alu 特异微同源介导缺失。

Genet Med. 2011 Jun;13(6):582-92. doi: 10.1097/GIM.0b013e3182106775.

Genetics of motor neuron disorders: new insights into pathogenic mechanisms.运动神经元疾病的遗传学：对致病机制的新见解

Nat Rev Genet. 2009 Nov;10(11):769-82. doi: 10.1038/nrg2680. Epub 2009 Oct 13.

New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).新的家系和新突变扩展了REEP1相关遗传性痉挛性截瘫（HSP）的表型。

Neurogenetics. 2009 Apr;10(2):105-10. doi: 10.1007/s10048-008-0163-z. Epub 2008 Nov 26.

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.非近亲遗传性痉挛性截瘫病例中CYP7B1的分析。

Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验