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Web End = J Neurol (2016) 263:19841992 DOI 10.1007/s00415-016-8213-1
http://crossmark.crossref.org/dialog/?doi=10.1007/s00415-016-8213-1&domain=pdf
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The heterozygous A53T mutation in the alpha-synuclein gene in a Chinese Han patient with Parkinson disease: case report and literature review
Wei-Xi Xiong1 Yi-Min Sun1 Rong-Yuan Guan1 Su-Shan Luo1
Chen Chen1 Yu An2 Jian Wang1 Jian-Jun Wu1,3
Received: 16 March 2016 / Revised: 20 June 2016 / Accepted: 20 June 2016 / Published online: 8 July 2016 Springer-Verlag Berlin Heidelberg 2016
Abstract The missense mutation A53T of alpha-synuclein gene (SNCA) was reported to be a rare but denite 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 anking regions of the PD-related genes using Illumina HiSeq 2000 sequencer and further conrmed by Sanger sequencing or restriction fragment length polymorphism. Dosage mutations of exons in these genes were carried out by multiple ligation-dependent probe amplication. 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 [11C]-2b-carbomethoxy-3b-(4-uorophenyl) tropan (CFT) PET and PD-related spatial
covariance pattern (PDRP) via [18F]-uorodeoxyglucos (FDG) PET conrmed 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 identied 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.
Keywords Parkinson disease A53T alpha-synuclein
mutation PET Dopamine transporter Parkinsons
disease-related spatial covariance pattern
Introduction
Parkinson disease (PD) is a common neurodegenerative disease characterized by bradykinesia, resting tremor, rigidity, and impaired postural reexes. The causes of PD remain elusive, but it is now well appreciated, that there are genetic factors in its pathogenesis [1]. Since the rst PD-associated missense mutation (c.209G [ A, p.Ala53Thr,
A53T) in the exon...