title: The heterozygous A53T mutation in the alpha-synuclein gene in a Chinese Han patient with Parkinson disease: case report and literature review.
abstract: The missense mutation A53T of alpha-synuclein gene (SNCA) was reported to be a rare but definite cause of sporadic and familial Parkinson disease (PD). It seemed to be restricted geographically in Greece and Italy. We aimed to identify the SNCA mutations in a Chinese PD cohort. Ninety-one early onset PD patients or familial PD probands were collected consecutively for the screening of PD-related genes. The genetic analysis was carried out by target sequencing of the exons and the corresponding flanking regions of the PD-related genes using Illumina HiSeq 2000 sequencer and further confirmed by Sanger sequencing or restriction fragment length polymorphism. Dosage mutations of exons in these genes were carried out by multiple ligation-dependent probe amplification. Among the 91 patients, we found only one heterozygous mutation of SNCA A53T, in a 23-year-old male patient with negative family history. The [(11)C]-2β-carbomethoxy-3β-(4-fluorophenyl) tropan (CFT) PET and PD-related spatial covariance pattern (PDRP) via [(18)F]-fluorodeoxyglucos (FDG) PET confirmed a typical pattern of PD. After examining his parents, we found his mother was an asymptomatic carrier, with declined hand dexterity detected by quantitative motor tests. Reduced dopamine transporter uptake of his mother was identified by CFT PET, and abnormal PDRP pattern was found by FDG PET. Our investigation expanded the clinical and genetic spectrum of Chinese PD patients, and we suggested SNCA mutations to be screened in familial and early onset Chinese PD patients.
authors.affiliation: Department and Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
authors.forename: Wei-Xi
authors.initials: WX
authors.lastname: Xiong
authors.affiliation: Department and Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
authors.forename: Yi-Min
authors.initials: YM
authors.lastname: Sun
authors.affiliation: Department and Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
authors.forename: Rong-Yuan
authors.initials: RY
authors.lastname: Guan
authors.affiliation: Department and Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
authors.forename: Su-Shan
authors.initials: SS
authors.lastname: Luo
authors.affiliation: Department and Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.affiliation: Institute of Biomedical Sciences, Medical School, Fudan University, 131 Dongan Road, Shanghai, 200032, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: An
authors.affiliation: Department and Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China. wangjian336@hotmail.com.
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department and Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China. wujianjun@fudan.edu.cn.|Department of Neurology, Jing'an District Center Hospital of Shanghai, 259 Xikang Road, Shanghai, 20040, China. wujianjun@fudan.edu.cn.
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002681:China / Q000453:epidemiology / Q000208:ethnology; D004252:DNA Mutational Analysis; D050483:Dopamine Plasma Membrane Transport Proteins / Q000378:metabolism; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics*; D049268:Positron-Emission Tomography; D055815:Young Adult; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D050483:Dopamine Plasma Membrane Transport Proteins; D051844:alpha-Synuclein
keywords: A53T alpha-synuclein mutation; Dopamine transporter; PET; Parkinson disease; Parkinson’s disease-related spatial covariance pattern