title: Mutation Analysis ofHTRA2Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.
abstract: Background.HTRA2has already been nominated as PARK13 which may cause Parkinson's disease, though there are still discrepancies among these results. Recently, Gulsuner et al.'s study found thatHTRA2p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease. We performed this study to validate the condition ofHTRA2gene in Chinese familial essential tremor and familial Parkinson's disease patients, especially essential tremor.Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson's disease patients, and 100 healthy controls.Results. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups.Conclusions.HTRA2exonic variant might be rare among Chinese Parkinson's disease and essential tremor patients with family history, andHTRA2may not be the cause of familial Parkinson's disease and essential tremor in China.
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Ya-Chao
authors.identifier: 0000-0003-4390-7617
authors.initials: YC
authors.lastname: He
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Pei
authors.identifier: 0000-0002-1593-1516
authors.initials: P
authors.lastname: Huang
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Qiong-Qiong
authors.initials: QQ
authors.lastname: Li
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Qian
authors.identifier: 0000-0003-2857-3911
authors.initials: Q
authors.lastname: Sun
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Dun-Hui
authors.identifier: 0000-0002-6438-2293
authors.initials: DH
authors.lastname: Li
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Tian
authors.identifier: 0000-0002-6030-5223
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Jun-Yi
authors.identifier: 0000-0002-2656-1856
authors.initials: JY
authors.lastname: Shen
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Juan-Juan
authors.identifier: 0000-0001-9867-5716
authors.initials: JJ
authors.lastname: Du
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Shi-Shuang
authors.identifier: 0000-0002-5356-338X
authors.initials: SS
authors.lastname: Cui
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Chao
authors.identifier: 0000-0001-9718-0148
authors.initials: C
authors.lastname: Gao
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Rao
authors.initials: R
authors.lastname: Fu
authors.affiliation: Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Sheng-Di
authors.identifier: 0000-0002-6891-2407
authors.initials: SD
authors.lastname: Chen