Poewe W, Seppi K, Tanner CM, Halliday GM, Brundin P, Volkmann J, et al. Parkinson disease. Nat Rev Dis Primers. 2017;3:17013.
PubMed
Google Scholar
Pang SY, Ho PW, Liu HF, Leung CT, Li L, Chang EES, et al. The interplay of aging, genetics and environmental factors in the pathogenesis of Parkinson's disease. Transl Neurodegener. 2019;8:23.
PubMed
PubMed Central
Google Scholar
Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 2003;54(Suppl 6):S32–45.
CAS
PubMed
Google Scholar
Lee WW, Jeon BS. Clinical spectrum of dopa-responsive dystonia and related disorders. Curr Neurol Neurosci Rep. 2014;14:461.
PubMed
PubMed Central
Google Scholar
Khan NL, Graham E, Critchley P, Schrag AE, Wood NW, Lees AJ, et al. Parkin disease: a phenotypic study of a large case series. Brain. 2003;126:1279–92.
PubMed
Google Scholar
Lewthwaite AJ, Lambert TD, Rolfe EB, Olgiati S, Quadri M, Simons EJ, et al. Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease. Parkinsonism Relat Disord. 2015;21:394–7.
CAS
PubMed
PubMed Central
Google Scholar
Thony B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. 2006;27:870–8.
CAS
PubMed
Google Scholar
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain. 2014;137:2480–92.
PubMed
PubMed Central
Google Scholar
Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, et al. Common and rare GCH1 variants are associated with Parkinson's disease. Neurobiol Aging. 2019;73:231 e231–6.
Google Scholar
Xu Q, Li K, Sun Q, Ding D, Zhao Y, Yang N, et al. Rare GCH1 heterozygous variants contributing to Parkinson's disease. Brain. 2017;140:e41.
PubMed
Google Scholar
Chang D, Nalls MA, Hallgrimsdottir IB, Hunkapiller J, van der Brug M, Cai F, et al. A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. Nat Genet. 2017;49:1511–6.
CAS
PubMed
PubMed Central
Google Scholar
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 2019;18:1091–102.
CAS
PubMed
PubMed Central
Google Scholar
Rengmark A, Pihlstrom L, Linder J, Forsgren L, Toft M. Low frequency of GCH1 and TH mutations in Parkinson's disease. Parkinsonism Relat Disord. 2016;29:109–11.
PubMed
Google Scholar
Yan YP, Zhang B, Shen T, Si XL, Guo ZY, Tian J, et al. Study of GCH1 and TH genes in Chinese patients with Parkinson's disease. Neurobiol Aging. 2018;68:159 e153–6.
Google Scholar
Karnuta JM, Scacheri PC. Enhancers: bridging the gap between gene control and human disease. Hum Mol Genet. 2018;27:R219–27.
CAS
PubMed
PubMed Central
Google Scholar
Davis AA, Andruska KM, Benitez BA, Racette BA, Perlmutter JS, Cruchaga C. Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression. Neurobiol Aging. 2016;37:209 e201–7.
Google Scholar
Liang D, Shu L, Pan H, Xu Q, Guo J, Yan X, et al. Clinical characteristics of PD patients with LRRK2 G2385R and R1628P variants. Neurosci Lett. 2018;685:185–9.
CAS
PubMed
Google Scholar
Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, et al. Genotype-phenotype relations for the Parkinson's disease genes Parkin, PINK1, DJ1: MDSGene systematic review. Mov Disord. 2018;33:730–41.
PubMed
Google Scholar
Zhang Y, Shu L, Zhou X, Pan H, Xu Q, Guo J, et al. A meta-analysis of GBA-related clinical symptoms in Parkinson's disease. Parkinsons Dis. 2018;2018:3136415.
PubMed
PubMed Central
Google Scholar
Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 1992;55:181–4.
CAS
PubMed
PubMed Central
Google Scholar
Postuma RB, Berg D, Stern M, Poewe W, Olanow CW, Oertel W, et al. MDS clinical diagnostic criteria for Parkinson's disease. Mov Disord. 2015;30:1591–601.
PubMed
Google Scholar
Blauwendraat C, Nalls MA, Singleton AB. The genetic architecture of Parkinson's disease. Lancet Neurol. 2019;19:170–8.
Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, et al. Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy. J Med Genet. 2019;56:265–70.
CAS
PubMed
Google Scholar
Guo JF, Zhang L, Li K, Mei JP, Xue J, Chen J, et al. Coding mutations in NUS1 contribute to Parkinson's disease. Proc Natl Acad Sci U S A. 2018;115:11567–72.
CAS
PubMed
PubMed Central
Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics. 2009;25:1754–60.
CAS
PubMed
PubMed Central
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.
CAS
PubMed
PubMed Central
Google Scholar
Yang H, Wang K. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc. 2015;10:1556–66.
CAS
PubMed
PubMed Central
Google Scholar
Li J, Shi L, Zhang K, Zhang Y, Hu S, Zhao T, et al. VarCards: an integrated genetic and clinical database for coding variants in the human genome. Nucleic Acids Res. 2018;46:D1039–48.
CAS
PubMed
Google Scholar
Li J, Zhao T, Zhang Y, Zhang K, Shi L, Chen Y, et al. Performance evaluation of pathogenicity-computation methods for missense variants. Nucleic Acids Res. 2018;46:7793–804.
CAS
PubMed
PubMed Central
Google Scholar
Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience. 2015;4:7.
PubMed
PubMed Central
Google Scholar
Zweig AS, Karolchik D, Kuhn RM, Haussler D, Kent WJ. UCSC genome browser tutorial. Genomics. 2008;92:75–84.
CAS
PubMed
Google Scholar
Fishilevich S, Nudel R, Rappaport N, Hadar R, Plaschkes I, Iny Stein T, et al. GeneHancer: genome-wide integration of enhancers and target genes in GeneCards. Database (Oxford). 2017;2017:bax028.
Consortium GT. The genotype-tissue expression (GTEx) project. Nat Genet. 2013;45:580–5.
Google Scholar
Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, et al. Launching the movement disorders society genetic mutation database (MDSGene). Mov Disord. 2016;31:607–9.
PubMed
Google Scholar
Dobricic V, Tomic A, Brankovic V, Kresojevic N, Jankovic M, Westenberger A, et al. GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: challenging previously reported prevalence rates of DOPA-responsive dystonia. Parkinsonism Relat Disord. 2017;45:81–4.
PubMed
Google Scholar
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain. 2009;132:1753–63.
PubMed
Google Scholar
Bandmann O, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet. 1996;5:403–6.
CAS
PubMed
Google Scholar
Cao L, Zheng L, Tang WG, Xiao Q, Zhang T, Tang HD, et al. Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia. Mov Disord. 2010;25:755–60.
PubMed
Google Scholar
Stang A. Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses. Eur J Epidemiol. 2010;25:603–5.
PubMed
Google Scholar
Lee S, Wu MC, Lin X. Optimal tests for rare variant effects in sequencing association studies. Biostatistics. 2012;13:762–75.
PubMed
PubMed Central
Google Scholar
Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet. 2013;92:841–53.
CAS
PubMed
PubMed Central
Google Scholar
Alves G, Larsen JP, Emre M, Wentzel-Larsen T, Aarsland D. Changes in motor subtype and risk for incident dementia in Parkinson's disease. Mov Disord. 2006;21:1123–30.
PubMed
Google Scholar
Yoshino H, Nishioka K, Li Y, Oji Y, Oyama G, Hatano T, et al. GCH1 mutations in dopa-responsive dystonia and Parkinson's disease. J Neurol. 2018;265:1860–70.
CAS
PubMed
Google Scholar
Guella I, Sherman HE, Appel-Cresswell S, Rajput A, Rajput AH, Farrer MJ. Parkinsonism in GTP cyclohydrolase 1 mutation carriers. Brain. 2015;138:e349.
PubMed
Google Scholar
Pang SY, Teo KC, Hsu JS, Chang RS, Li M, Sham PC, et al. The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review. Transl Neurodegener. 2017;6:27.
CAS
PubMed
PubMed Central
Google Scholar
Ascherio A, Schwarzschild MA. The epidemiology of Parkinson's disease: risk factors and prevention. Lancet Neurol. 2016;15:1257–72.
PubMed
Google Scholar
Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrom L, et al. Parkinson's disease age at onset genome-wide association study: defining heritability, genetic loci, and alpha-synuclein mechanisms. Mov Disord. 2019;34:866–75.
CAS
PubMed
PubMed Central
Google Scholar