title: Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population.
abstract: Friedreich's Ataxia (FRDA) is a very common cause of hereditary autosomal recessive ataxia among western Europeans. We aim to define the frequency of FRDA in Chinese Han population due to the lack of reports of FRDA in China. The GAA trinucleotide repeats in the FXN gene were analyzed by triplet repeat-primed PCR (TP-PCR) in 122 unrelated hereditary ataxia (HA) and 114 unrelated hereditary spastic paraplegia (HSP) patients. The GAA copy numbers in the FXN gene of all the subjects ranged from 5 to 16. There were no FRDA patients that could be diagnosed base on the results of TP-PCR. It suggests that FRDA is a very rare cause of inheritance ataxia and FRDA genetic analysis should not be used as a routine genetic diagnosis test in China.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Junsheng
authors.initials: J
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan, PR China.
authors.forename: Junling
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Sheng
authors.initials: S
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Miao
authors.initials: M
authors.lastname: He
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Xianfeng
authors.initials: X
authors.lastname: Zeng
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan, PR China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan, PR China; State Key Laboratory of Medical Genetics, Changsha, Hunan, PR China. Electronic address: bstang7398@163.com.
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
mesh_terms: D002681:China / Q000453:epidemiology; D005621:Friedreich Ataxia / Q000453:epidemiology / Q000235:genetics*; D006801:Humans
keywords: ARCA; Chinese Han population; Friedreich's Ataxia; GAA repeats; Molecular genetics; TP-PCR