[1] Postuma RB, Poewe W, Litvan I, Lewis S, Lang AE, Halliday G, Goetz CG, Chan P, Slow E, Seppi K, Schaffer E, Rios-Romenets S, Mi T, Maetzler C, Li Y, Heim B, Bledsoe IO, Berg D. Validation of the MDS clinical diagnostic criteria for Parkinson's disease[J]. Mov Disord, 2018, 33:1601-1608.
[2] Quinn N, Critchley P, Marsden CD. Young onset Parkinson's disease[J]. Mov Disord, 1987, 2:73-91.
[3] Mehanna R, Jankovic J. Young-onset Parkinson's disease:its unique features and their impact on quality of life[J]. Parkinsonism Relat Disord, 2019, 65:39-48.
[4] Gan-Or Z, Dion PA, Rouleau GA. Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease[J]. Autophagy, 2015, 11:1443-1457. Zhang PP. Cellular and
[5] Zeng XS, Geng WS, Jia JJ, Chen L, molecular basis of neurodegeneration in Parkinson disease[J]. Front Aging Neurosci, 2018, 10:109.
[6] Sanyal J, Jana A, Ghosh E, Banerjee TK, Chakraborty DP, Rao VR. Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients[J]. J Hum Genet, 2015, 60:485-492.
[7] Chien HF, Rohé CF, Costa MD, Breedveld GJ, Oostra BA, Barbosa ER, Bonifati V. Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil[J]. Neurogenetics, 2006, 7:13-19.
[8] Grünewald A, Kasten M, Ziegler A, Klein C. Next-generation phenotyping using the parkin example:time to catch up with genetics[J]. JAMA Neurol, 2013, 70:1186-1191.
[9] Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C. Genotype-phenotype relations for the Parkinson's disease genes parkin, PINK1, DJ1:MDSGene systematic review[J]. Mov Disord, 2018, 33:730-741.
[10] Chung SJ, Park HK, Ki CS, Kim MJ, Lee MC. Marked diurnal fluctuation and rest benefit in a patient with parkin mutation[J]. Mov Disord, 2008, 23:624-626.
[11] Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC; Parkinson Study Group-PROGENI Investigators. Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations[J]. Neurology, 2009, 73:279-286.
[12] Zhuang N, Li L, Chen S, Wang T. PINK1-dependent phosphorylation of PINK1 and Parkin is essential for mitochondrial quality control[J]. Cell Death Dis, 2016, 7:e2501.
[13] Kumar A, Tamjar J, Waddell AD, Woodroof HI, Raimi OG, Shaw AM, Peggie M, Muqit MM, van Aalten DM. Structure of PINK1 and mechanisms of Parkinson's disease-associated mutations[J]. Elife, 2017, 6:e29985.
[14] Chakraborty J, Ziviani E. Deubiquitinating enzymes in Parkinson's disease[J]. Front Physiol, 2020, 11:535.
[15] Narendra D, Tanaka A, Suen DF, Youle RJ. Parkin-induced mitophagy in the pathogenesis of Parkinson disease[J]. Autophagy, 2009, 5:706-708.
[16] van der Vegt JP, van Nuenen BF, Bloem BR, Klein C, Siebner HR. Imaging the impact of genes on Parkinson's disease[J]. Neuroscience, 2009, 164:191-204.
[17] Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denèfle P, Wood NW, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Association between early-onset Parkinson's disease and mutations in the parkin gene[J]. N Engl J Med, 2000, 342:1560-1567.
[18] Chan DK, Mok V, Ng PW, Yeung J, Kwok JB, Fang ZM, Clarke R, Wong L, Schofield PR, Hattori N. PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease[J]. J Neural Transm (Vienna), 2008, 115:715-719.
[19] Zhang ZX, Roman GC, Hong Z, Wu CB, Qu QM, Huang JB, Zhou B, Geng ZP, Wu JX, Wen HB, Zhao H, Zahner GE. Parkinson's disease in China:prevalence in Beijing, Xian, and Shanghai[J]. Lancet, 2005, 365:595-597.
[20] Postuma RB, Berg D, Stern M, Poewe W, Olanow CW, Oertel W, Obeso J, Marek K, Litvan I, Lang AE, Halliday G, Goetz CG, Gasser T, Dubois B, Chan P, Bloem BR, Adler CH, Deuschl G. MDS clinical diagnostic criteria for Parkinson's disease[J]. Mov Disord, 2015, 30:1591-1601.
[21] Kasamo S, Takeuchi M, Ikuno M, Kawasaki Y, Tanaka S, Takahashi R, Kawakami K. Real-world pharmacological treatment patterns of patients with young-onset Parkinson's disease in Japan:a medical claims database analysis[J]. J Neurol, 2019, 266:1944-1952. |