Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein

Christine Zühlke; Katrin Bürk

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Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein

机译：脊髓小脑共济失调17型是由TATA盒结合蛋白的突变引起的

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The spinocerebellar ataxia type 17 (SCA17) is characterized by cerebellar ataxia, dementia, and involuntary movements, including chorea and dystonia. In addition, psychiatric symptoms, pyramidal signs, and rigidity are common. MRI shows variable atrophy of the cerebrum, brainstem, and cerebellum. The autosomal dominantly inherited progressive neurodegenerative disorder is caused by an expanded CAA/CAG repeat coding for glutamine. Alleles of the normal range carry 25 to 42 glutamine residues, disease causing alleles 43 to 63. Alleles with 43 to 48 glutamine codons may be associated with incomplete penetrance. The mean age of onset is about 30 years for individuals with full-penetrance alleles, but ranges from three to 55 years.

机译：17型脊髓小脑共济失调（SCA17）的特征是小脑性共济失调，痴呆和包括舞蹈症和肌张力障碍的非自愿运动。另外，精神病症状，锥体束征和僵硬是常见的。 MRI显示大脑，脑干和小脑的萎缩程度不同。常染色体显性遗传的进行性神经退行性疾病是由编码谷氨酰胺的扩大的CAA / CAG重复序列引起的。正常范围的等位基因携带25至42个谷氨酰胺残基，致病的等位基因为43至63。具有43至48个谷氨酰胺密码子的等位基因可能与渗透率不完全相关。具有全穿透性等位基因的个体的平均发病年龄约为30岁，但范围为3至55岁。

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来源
《The Cerebellum》 |2007年第4期|300-307|共8页
作者
Christine Zühlke; Katrin Bürk;
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作者单位

Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany;

Department of Neurology, University of Marburg, Germany;

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原文格式 PDF
正文语种 eng
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关键词
Cerebellum; ataxia; SCA17; TBP; repeat expansion;

机译：小脑;共济失调;SCA17;TBP;重复扩张;

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专利

1. Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. [J] . Nolte D, Sobanski E, Wissen A, Journal of Neurology, Neurosurgery and Psychiatry . 2010,第12期

机译：TATA-box结合蛋白基因中42个谷氨酰胺残基的扩展与17型脊髓小脑共济失调有关。
2. Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. [J] . Tomiuk J, Bachmann L, Bauer C, European journal of human genetics: EJHG . 2007,第1期

机译：TATA盒结合蛋白基因的脊髓小脑共济失调17型等位基因中的重复扩展：一种进化的方法。
3. Mutations in NOTCH3 Gene may Promote the Clinical Presentation of Spinocerebellar Ataxia Type 37 Caused by Mutations in DAB1 Gene [J] . Wang Zhao-Wei, Wang Li-Ping, Du Ye, Frontiers in Molecular Biosciences . 2021,第a期

机译：Notch3基因中的突变可以促进由DAB1基因突变引起的旋转脑骨骼突出型37的临床介绍
4. Role of EMG Rectification for Corticomuscular and Intermuscular Coherence Estimation of Spinocerebellar Ataxia Type 2 (SCA2) [C] . Y. Ruiz-Gonzalez, L. Velazquez-Perez, R. Rodriguez-Labrada, Iberoamerican congress on pattern recognition . 2019

机译：EMG矫正对2型脊髓小脑共济失调（SCA2）的皮质肌和肌间相干估计的作用。
5. Distinct Functional Effects of Kv3.3 Mutations Associated with Spinocerebellar Ataxia Type-13 [D] . Minassian, Natali Anne. 2010

机译：Kv3.3突变与脊髓小脑共济失调13型的不同功能作用。
6. Mutations in NOTCH3 Gene may Promote the Clinical Presentation of Spinocerebellar Ataxia Type 37 Caused by Mutations in DAB1 Gene [O] . Zhao-Wei Wang, Li-Ping Wang, Ye Du, 2021

机译：Notch3基因的突变可以促进由DAB1基因突变引起的旋椎脑肌腱缺乏症型37的临床介绍
7. β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi [O] . Clarkson, Yvonne L., Gillespie, Trudi, Perkins, Emma M., 2010

机译：与5型脊髓小脑共济失调相关的β-III血影蛋白突变L253P干扰与Arp1的结合和高尔基体的蛋白运输

Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein

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