title: Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.
abstract: 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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Chunrong
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Epidemiology and Biostatistics, School of Public Health, Central South University, Changsha, Hunan, 410078, P. R. China.
authors.forename: Fang
authors.initials: F
authors.lastname: Yang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Bin
authors.initials: B
authors.lastname: Jiao
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Huirong
authors.initials: H
authors.lastname: Peng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Yuting
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Yaqin
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Fengzhen
authors.initials: F
authors.lastname: Huang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China.
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China; State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, P. R. China.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.affiliation: State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, P. R. China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China; State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, P. R. China.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China; Department of Neurology, University of Florida, Gainesville, FL, 32610, United States of America.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China; State Key Laboratory of Medical Genetics of China, Central South University, Changsha, Hunan, 410078, P. R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000328:Adult; D000073885:C9orf72 Protein; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005838:Genotype; D006801:Humans; D017827:Machado-Joseph Disease / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D011379:Prognosis; D011506:Proteins / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins