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Spinocerebellar ataxia type 11 in the Chinese Han population

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Abstract

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. Researchers have recently found that SCA type 11 (SCA11) is associated with mutations in the TTBK2 gene. In our previous work, we performed mutation detection in SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy gene in Chinese SCA patients, but the genes responsible for approximately 40% of our patients have not yet been identified. To investigate the frequency of SCA11 in Chinese SCA patients, we examined the TTBK2 gene in 68 unrelated probands diagnosed with dominantly inherited ataxia using the denaturing high-performance liquid chromatography method. All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified. We provided the evidence that SCA11 is a rare form of ataxia in China.

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Acknowledgments

We thank the participating patients for their cooperation. This study was supported by a grant from the National 863 High-tech Project (No. 2006AA02A408), a grant from the National Basic Research Program (973 program) (No. 2006cb500700), a grant from the National Science and Technology Support Project of “the Eleventh Five-year Plan” (No. 2006BAI05A07) and grants from the National Natural Science Foundation of China (30681151 and 30400262).

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Authors and Affiliations

  1. Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, China

    Qian Xu, Xiaohui Li, Junling Wang, JiPing Yi, Lu Shen, Hong Jiang & Beisha Tang

  2. State Key Lab of Medical Genetics, Central South University, Changsha, China

    Kun Xia, Qian Pan & Beisha Tang

  3. Neurodegenerative Disorder Research Center, Central South University, Changsha, China

    Lu Shen, Hong Jiang & Beisha Tang

  4. Department of Neurology, Xiangya Third Hospital, Central South University, Changsha, China

    Lifang Lei

Authors
  1. Qian Xu
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  2. Xiaohui Li
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  3. Junling Wang
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  4. JiPing Yi
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  5. Lifang Lei
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  6. Lu Shen
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  7. Hong Jiang
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  8. Kun Xia
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  9. Qian Pan
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  10. Beisha Tang
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Correspondence to Beisha Tang.

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Xu, Q., Li, X., Wang, J. et al. Spinocerebellar ataxia type 11 in the Chinese Han population. Neurol Sci 31, 107–109 (2010). https://doi.org/10.1007/s10072-009-0129-4

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