A novel variant in the spatacsin gene causing SPG11 in a Malian family.
作者信息
Landouré Guida, Dembélé Kékouta, Diarra Salimata, Cissé Lassana, Samassékou Oumar, Bocoum Abdoulaye, Yalcouyé Abdoulaye, Traoré Moussa, Fischbeck Kenneth H, Guinto Cheick O
机构信息
Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali; Service de Neurologie, Centre Hospitalier Universitaire du Point "G", Bamako, Mali; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD.
Service de Neurologie, Centre Hospitalier Universitaire du Point "G", Bamako, Mali.
出版信息
J Neurol Sci. 2020 Apr 15;411:116675. doi: 10.1016/j.jns.2020.116675. Epub 2020 Jan 7.
Abstract
摘要
相似文献
1
A novel variant in the spatacsin gene causing SPG11 in a Malian family.一个导致马里家庭中出现SPG11的spatacsin基因新变异体。
J Neurol Sci. 2020 Apr 15;411:116675. doi: 10.1016/j.jns.2020.116675. Epub 2020 Jan 7.
2
Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.spatacsin功能障碍导致SPG11相关遗传性痉挛性截瘫中的轴突病变。
Hum Mol Genet. 2014 Sep 15;23(18):4859-74. doi: 10.1093/hmg/ddu200. Epub 2014 May 2.
3
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.常染色体隐性遗传性痉挛性截瘫伴胼胝体发育不良：SPG11 基因的新突变及遗传异质性的进一步证据。
Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x.
4
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).由Spatacsin突变（SPG11）引起的遗传性痉挛性截瘫的临床异质性及基因型-表型相关性
Eur J Neurol. 2008 Oct;15(10):1065-70. doi: 10.1111/j.1468-1331.2008.02247.x. Epub 2008 Aug 20.
5
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.ZFYVE26/SPASTIZIN 和 SPG11/SPATACSIN 突变在遗传性痉挛性截瘫 AR-SPG15 和 AR-SPG11 型中对自噬和内吞作用有不同的影响。
Autophagy. 2019 Jan;15(1):34-57. doi: 10.1080/15548627.2018.1507438. Epub 2018 Sep 13.
6
Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.两面神样星状细胞瘤关联蛋白（SPG11）：与神经发育和多系统神经退行性变有关。
Brain. 2020 Aug 1;143(8):2369-2379. doi: 10.1093/brain/awaa099.
7
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.与spatacsin相关的痉挛性截瘫的长期病程和突变谱
Ann Neurol. 2007 Dec;62(6):656-65. doi: 10.1002/ana.21310.
8
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.SPG11突变在复杂型遗传性痉挛性截瘫的家族病例中很常见。
Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12.
9
Cytosolic sequestration of spatacsin by Protein Kinase A and 14-3-3 proteins.蛋白激酶 A 和 14-3-3 蛋白将 spataxin 隔离在细胞质中。
Neurobiol Dis. 2022 Nov;174:105858. doi: 10.1016/j.nbd.2022.105858. Epub 2022 Sep 9.
10
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.Alu 元件介导大型 SPG11 基因突变：进一步的 spataxin 突变。
Genet Med. 2012 Jan;14(1):143-51. doi: 10.1038/gim.2011.7.
引用本文的文献
1
Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.推进非洲神经遗传学：过去的成就、当前的发展及塑造未来
Nat Rev Neurol. 2025 May 23. doi: 10.1038/s41582-025-01098-3.
2
Rare Variants Cause Charcot-Marie-Tooth Disease in Malian Families.罕见变异导致马里家庭患夏科-马里-图思病。
Brain Behav. 2025 May;15(5):e70496. doi: 10.1002/brb3.70496.
3
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.全外显子组测序揭示了马里听力障碍的已知基因和候选基因。
HGG Adv. 2025 Jan 9;6(1):100391. doi: 10.1016/j.xhgg.2024.100391. Epub 2024 Dec 10.
4
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.AP2A2 突变与马里遗传性痉挛性截瘫一家系的内吞作用缺陷
Neurobiol Dis. 2024 Aug;198:106537. doi: 10.1016/j.nbd.2024.106537. Epub 2024 May 19.
5
Novel variant in causes Charcot-Marie-Tooth disease.[基因名称]中的新型变异导致夏科-马里-图思病。 （注：原文中“Novel variant in ”后面缺少具体基因名称，这里翻译时补充了“[基因名称]”，以便译文完整表意。）
Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023.
6
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.增加非洲基因组数据的生成和共享，以解决非洲的罕见病和未确诊疾病：H3Africa 罕见病工作组的行动呼吁。
Orphanet J Rare Dis. 2022 Jun 16;17(1):230. doi: 10.1186/s13023-022-02391-w.
本文引用的文献
1
Hereditary spastic paraplegia type 35 in a family from Mali.来自马里一个家族的35型遗传性痉挛性截瘫。
Am J Med Genet A. 2019 Jul;179(7):1122-1125. doi: 10.1002/ajmg.a.61179. Epub 2019 May 14.
2
A novel mutation in in a Malian family with spastic paraplegia and sensory loss.一个患有痉挛性截瘫和感觉丧失的马里家庭中的一种新突变。
Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr.
3
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.遗传性痉挛性截瘫 43 型（SPG43）是由 C19orf12 突变引起的。
Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.
4
Exome sequencing reveals SPG11 mutations causing juvenile ALS.外显子组测序揭示 SPG11 突变导致青少年型肌萎缩侧索硬化症。
Neurobiol Aging. 2012 Apr;33(4):839.e5-9. doi: 10.1016/j.neurobiolaging.2011.11.012. Epub 2011 Dec 10.
5
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.SPG11 中的新突变导致早发性左旋多巴反应性帕金森病相关的遗传性痉挛性截瘫。
Mov Disord. 2011 Feb 15;26(3):553-6. doi: 10.1002/mds.23552. Epub 2011 Mar 4.
6
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.挪威东南部遗传性共济失调和痉挛性截瘫的患病率：一项基于人群的研究。
Brain. 2009 Jun;132(Pt 6):1577-88. doi: 10.1093/brain/awp056. Epub 2009 Mar 31.
7
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.SPG11基因的突变在伴有胼胝体变薄、认知功能减退和下运动神经元变性的常染色体隐性遗传性痉挛性截瘫中很常见。
Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13.
8
Hereditary spastic paraplegias.
Semin Neurol. 1993 Dec;13(4):333-6. doi: 10.1055/s-2008-1041143.
Zotero 插件