Analysis of the GGGGCC repeat expansions of the C9orf72 gene in SCA3/MJD patients from China

Chunrong Wang, Zhao Chen, Fang Yang, Bin Jiao, Huirong Peng, Yuting Shi, Yaqin Wang, Fengzhen Huang, Junling Wang, Lu Shen, Kun Xia, Beisha Tang, Tetsuo Ashizawa, Hong Jiang

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9 Scopus citations


Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common. A certain causative gene identified for a particular disease may be found to play roles in more than one neurodegenerative disorder. We analyzed the GGGGCC repeat expansions of C9orf72 gene in patients with SCA3/MJD from mainland China to determine whether the C9orf72 gene plays a role in the pathogenesis of SCA3/MJD. In our study, there were no pathogenic repeats (>30 repeats) detected in either the patients or controls. SCA3/MJD patients with intermediate/intermediate or short/ intermediate genotype (short: < 7 repeats; intermediate: 7-30 repeats) of the GGGGCC repeats had an earlier onset compared with those with short/short genotype. The presence of the intermediate allele of the GGGGCC repeats in the patients decreased the age at onset by nearly 3 years. Our study firstly demonstrate that the development of SCA3/MJD may involve some physiological functions of the C9orf72 gene and provide new evidence to the hypothesis that a specific mutation identified in one of the neurodegenerative disorders may be a modulator in this class of diseases.

Original languageEnglish (US)
Article numbere0130336
JournalPLoS ONE
Issue number6
StatePublished - Jun 17 2015

ASJC Scopus subject areas

  • General


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