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Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.

作者信息

Dalski Andreas, Mitulla Beate, Bürk Katrin, Schattenfroh Christoph, Schwinger Eberhard, Zühlke Christine

出版信息

J Neurol. 2006 Aug;253(8):1111-2. doi: 10.1007/s00415-006-0209-9. Epub 2006 Apr 28.

DOI:10.1007/s00415-006-0209-9
PMID:16649092
Abstract
摘要

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1
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.一个患有缓慢进展性小脑共济失调的家族中，与SCA14相关的PRKCG基因高度保守的半胱氨酸残基131发生突变。
J Neurol. 2006 Aug;253(8):1111-2. doi: 10.1007/s00415-006-0209-9. Epub 2006 Apr 28.
2
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.在一个荷兰常染色体显性遗传性小脑共济失调家族中鉴定出一种新的SCA14突变。
Neurology. 2003 Dec 23;61(12):1760-5. doi: 10.1212/01.wnl.0000098883.79421.73.
3
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.Gly118Asp是荷兰共济失调人群中的一种脊髓小脑共济失调14型（SCA14）始祖突变。
Hum Genet. 2005 Jun;117(1):88-91. doi: 10.1007/s00439-005-1278-z. Epub 2005 Apr 20.
4
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.挪威的 SCA14，两个常染色体显性小脑共济失调家系和 PRKCG 基因的一个新突变。
Acta Neurol Scand. 2012 Feb;125(2):116-22. doi: 10.1111/j.1600-0404.2011.01504.x. Epub 2011 Mar 21.
5
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.蛋白激酶Cγ突变导致的14型脊髓小脑共济失调。
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Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.蛋白激酶Cγ催化结构域的突变与14型脊髓小脑共济失调相关表型的扩展
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7
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.一个荷兰脊髓小脑共济失调家族中的新型PRKCG/SCA14突变：扩展表型
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Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.通过筛查PRKCG基因第4外显子在日本脊髓小脑共济失调患者群体中鉴定出一个新的脊髓小脑共济失调14型家系。
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Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.由PRKCG基因中Gly128Asp突变引起的SCA14表型谱的扩展。
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J Neurol. 2022 Mar;269(3):1476-1484. doi: 10.1007/s00415-021-10712-5. Epub 2021 Jul 22.
2
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.脊髓小脑性共济失调 14 型：在一种罕见的成年发病的疾病中，完善临床遗传学诊断。
Ann Clin Transl Neurol. 2021 Apr;8(4):774-789. doi: 10.1002/acn3.51315. Epub 2021 Mar 19.
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Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration.

本文引用的文献

1
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.与14型脊髓小脑共济失调相关的蛋白激酶Cγ新突变。
Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628.
2
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.一种新的H101Q突变导致14型脊髓小脑共济失调中蛋白激酶Cγ缺失。
J Hum Genet. 2005;50(10):523-529. doi: 10.1007/s10038-005-0287-z. Epub 2005 Sep 28.
3
The clinical and genetic spectrum of spinocerebellar ataxia 14.脊髓小脑共济失调14型的临床和遗传谱系
特发性震颤在其他形式的小脑变性中的意义。
Cerebellum. 2020 Dec;19(6):879-896. doi: 10.1007/s12311-020-01160-4.
4
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.14 型脊髓小脑共济失调的基因型-表型相关性、肌张力障碍和疾病进展。
Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30.
5
An update on Spino-cerebellar ataxias.脊髓小脑共济失调的最新进展。
Ann Indian Acad Neurol. 2013 Jul;16(3):295-303. doi: 10.4103/0972-2327.116896.
6
Nociceptive-induced myocardial remote conditioning is mediated by neuronal gamma protein kinase C.伤害性刺激诱导的心肌远隔预处理是由神经元γ蛋白激酶 C 介导的。
Basic Res Cardiol. 2013 Sep;108(5):381. doi: 10.1007/s00395-013-0381-x. Epub 2013 Aug 28.
7
A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14.与14型脊髓小脑共济失调相关的蛋白激酶Cγ C2结构域中的一种新型突变。
J Neurol. 2013 Jun;260(6):1664-6. doi: 10.1007/s00415-013-6916-0. Epub 2013 Apr 21.
8
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.SCA26 中的一个保守 eEF2 编码变异导致翻译保真度丧失和对蛋白质稳态损伤的易感性增加。
Hum Mol Genet. 2012 Dec 15;21(26):5472-83. doi: 10.1093/hmg/dds392. Epub 2012 Sep 21.
9
Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.海藻糖对突变型γPKC（引起脊髓小脑共济失调 14 型）在神经元细胞系和培养的浦肯野细胞中的特性的影响。
J Biol Chem. 2010 Oct 22;285(43):33252-33264. doi: 10.1074/jbc.M110.146704. Epub 2010 Aug 12.
10
The spinocerebellar ataxias.脊髓小脑性共济失调
J Neuroophthalmol. 2009 Sep;29(3):227-37. doi: 10.1097/WNO0b013e3181b416de.
Neurology. 2005 Apr 12;64(7):1258-60. doi: 10.1212/01.WNL.0000156801.64549.6B.
4
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.脊髓小脑共济失调14型中的蛋白激酶Cγ突变增加激酶活性并改变膜靶向。
Brain. 2005 Feb;128(Pt 2):436-42. doi: 10.1093/brain/awh378. Epub 2004 Dec 23.
5
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.蛋白激酶Cγ催化结构域的突变与14型脊髓小脑共济失调相关表型的扩展
Arch Neurol. 2004 Aug;61(8):1242-8. doi: 10.1001/archneur.61.8.1242.
6
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.在一个荷兰常染色体显性遗传性小脑共济失调家族中鉴定出一种新的SCA14突变。
Neurology. 2003 Dec 23;61(12):1760-5. doi: 10.1212/01.wnl.0000098883.79421.73.
7
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.蛋白激酶Cγ突变导致的14型脊髓小脑共济失调。
Arch Neurol. 2003 Dec;60(12):1749-51. doi: 10.1001/archneur.60.12.1749.
8
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.蛋白激酶Cγ调节域中的错义突变：显性非发作性小脑共济失调的新机制。
Am J Hum Genet. 2003 Apr;72(4):839-49. doi: 10.1086/373883. Epub 2003 Mar 17.