Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M et al (2014) Cognitive and motor function in long-duration PARKIN-associated Parkinson disease. JAMA Neurol 71(1):62–7. https://doi.org/10.1001/jamaneurol.2013.4498

Angelopoulou E, Paudel YN, Papageorgiou SG, Piperi C (2022) Environmental impact on the epigenetic mechanisms underlying Parkinson’s disease pathogenesis: a narrative review. Brain Sci 12(2):175. https://doi.org/10.3390/brainsci12020175

Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, Harris MA, Hill DP, Issel-Tarver L, Kasarskis A, Lewis S, Matese JC, Richardson JE, Ringwald M, Rubin GM, Sherlock G (2000) Gene ontology: tool for the unification of biology. The gene ontology consortium. Nat Genet 25(1):25–29. https://doi.org/10.1038/75556

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bastian M, Heymann S, Jacomy M (2009) Gephi: an open source software for exploring and manipulating networks. In: International AAAI Conference on Weblogs and Social Media 3(1):361–362. https://doi.org/10.1609/icwsm.v3i1.13937

Ben Romdhan S, Sakka S, Farhat N, Triki S,Dammak M, Mhiri C (2018) A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson’s Disease Associated with Epilepsy. J Mol Neurosci 66(2):273-278. https://doi.org/10.1007/s12031-018-1167-2

Blauwendraat C, Nalls MA, Singleton AB (2020) The genetic architecture of Parkinson’s disease. Lancet Neurol 19(2):170–178. https://doi.org/10.1016/S1474-4422(19)30287-X.

Bouhouche A, Tesson C, Regragui W, Rahmani M, Drouet V, Tibar H, Souirti Z, Ben El Haj R, Bouslam N, Yahyaoui M, Brice A, Benomar A, Lesage S (2017) Mutation analysis of consanguineous moroccan patients with Parkinson’s Disease combining microarray and gene panel. Front Neurol 31(8):567. https://doi.org/10.3389/fneur.2017.00567

Article  Google Scholar 

Cao M, Milosevic I, Giovedi S, De Camilli P (2014) Upregulation of Parkin in endophilin mutant mice. J Neurosci 34(49):16544–16549. https://doi.org/10.1523/JNEUROSCI.1710-14.2014

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cao M, Wu Y, Ashrafi G, McCartney AJ, Wheeler H, Bushong EA, Boassa D, Ellisman MH, Ryan TA, De Camilli P (2017) Parkinson sac domain mutation in synaptojanin 1 impairs clathrin uncoating at synapses and triggers dystrophic changes in dopaminergic axons. Neuron 93(4):882-896.e5. https://doi.org/10.1016/j.neuron.2017.01.019

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chandler RJ, Cogo S, Lewis PA, Kevei E (2021) Modelling the functional genomics of Parkinson's disease in Caenorhabditis elegans: LRRK2 and beyond. Biosci Rep 41(9):BSR20203672. 10.1042/BSR20203672

Chen KH, Wu RM, Lin HI, Tai CH, Lin CH (2015) Mutational analysis of SYNJ1 gene (PARK20) in Parkinson’s disease in a Taiwanese population. Neurobiol Aging 36(10):2905.e7–8. https://doi.org/10.1016/j.neurobiolaging.2015.06.009

Article  CAS  PubMed  Google Scholar 

Cukier HN, Kim H, Griswold AJ, Codreanu SG, Prince LM, Sherrod SD, McLean JA, Dykxhoorn DM, Ess KC, Hedera P, Bowman AB, Neely MD (2022) Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions. NPJ Parkinsons Dis 8(1):84. https://doi.org/10.1038/s41531-022-00346-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43(5):491–498. https://doi.org/10.1038/ng.806

Article  CAS  PubMed  PubMed Central  Google Scholar 

Eggers C, Schmidt A, Hagenah J, Brüggemann N, Klein JC, Tadic V, Kertelge L, Kasten M, Binkofski F, Siebner H, Neumaier B, Fink GR, Hilker R, Klein C (2010) Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit. Neurology 74(22):1798–1805. https://doi.org/10.1212/WNL.0b013e3181e0f79c

Article  CAS  PubMed  Google Scholar 

Fallon L, Bélanger CM, Corera AT, Kontogiannea M, Regan-Klapisz E, Moreau F, Voortman J, Haber M, Rouleau G, Thorarinsdottir T, Brice A, van Bergen En Henegouwen PM, Fon EA (2006) A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling. Nat Cell Biol 8(8):834-42.https://doi.org/10.1038/ncb1441

Fasano D, Parisi S, Pierantoni GM, De Rosa A, Picillo M, Amodio G, Pellecchia MT, Barone P, Moltedo O, Bonifati V, De Michele G, Nitsch L, Remondelli P, Criscuolo C, Paladino S (2018) Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations. Cell Death Dis 7;9(3):385. https://doi.org/10.1038/s41419-018-0410-7

García-Carmona JA, Amores-Iniesta J, Soler-Usero J, Cerdán-Sánchez M, Navarro-Zaragoza J, López-López M, Soria-Torrecillas JJ, Ballesteros-Arenas A, Pérez-Vicente JA, Almela P (2023) Upregulation of heat-shock protein (hsp)-27 in a patient with heterozygous SPG11 c.1951C>T and SYNJ1 c.2614G>T mutations causing clinical spastic paraplegia. Genes (Basel) 14(7):1320. https://doi.org/10.3390/genes14071320

GBD 2016 Neurology Collaborators (2016) Global, regional, and national burden of neurological disorders, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet Neurol 18(5):459–480. https://doi.org/10.1016/S1474-4422(18)30499

Ghanbari M, Darweesh SK, de Looper HW, van Luijn MM, Hofman A, Ikram MA, Franco OH, Erkeland SJ, Dehghan A (2016) Genetic variants in MicroRNAs and their binding sites are associated with the risk of Parkinson disease. Hum Mutat 37(3):292–300. https://doi.org/10.1002/humu.22943

Article  CAS  PubMed  Google Scholar 

Grünewald A, Kumar KR, Sue CM (2019) New insights into the complex role of mitochondria in Parkinson’s disease. Prog Neurobiol 177:73–93. https://doi.org/10.1016/j.pneurobio.2018.09.003

Article  CAS  PubMed  Google Scholar 

Haffner C, Takei K, Chen H, Ringstad N, Hudson A, Butler MH, Salcini AE, Di Fiore PP, De Camilli P (1997) Synaptojanin 1: localization on coated endocytic intermediates in nerve terminals and interaction of its 170 kDa isoform with Eps15. FEBS Lett 419(2–3):175–180. https://doi.org/10.1016/s0014-5793(97)01451-8

Article  CAS  PubMed  Google Scholar 

Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium; Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S (2016) Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain 139(Pt 9):2420-30.https://doi.org/10.1093/brain/aww180

Hoenicka J, Vidal L, Morales B, Ampuero I, Jiménez-Jiménez FJ, Berciano J, del Ser T, Jiménez A, Ruíz PG, de Yébenes (2002) Molecular findings in familial Parkinson disease in Spain. Arch Neurol 59(6):966-70.https://doi.org/10.1001/archneur.59.6.966

Hong D, Cong L, Zhong S, He Y, Xin L, Gao X, Zhang J (2019) Clonazepam improves the symptoms of two siblings with novel variants in the SYNJ1 gene. Parkinsonism Relat Disord 62:221–225. https://doi.org/10.1016/j.parkreldis.2018.11.020

Article  PubMed  Google Scholar 

Illés A, Csabán D, Grosz Z, Balicza P, Gézsi A,Molnár V, et al (2019) The Role of Genetic Testing in the Clinical Practiceand Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort:Increasing Challenge in Genetic Counselling, Improving Chances inStratification for Clinical Trials. Front Genet 10:1061. https://doi.org/10.3389/fgene.2019.01061

Jia F, Fellner A, Kumar KR (2022) Monogenic Parkinson's disease: genotype, phenotype, pathophysiology, and genetic testing. Genes (Basel) 7;13(3):471. https://doi.org/10.3390/genes13030471

Kanehisa M, Goto S (2000) KEGG: kyoto encyclopedia of genes and genomes. Nucleic Acids Res 28(1):27–30. https://doi.org/10.1093/nar/28.1.27

Article  CAS  PubMed  PubMed Central  Google Scholar 

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 (2018) Genotype-phenotype relations for the Parkinson’s disease genes Parkin, PINK1, DJ1: MDSGene systematic review. Mov Disord 33(5):730–741. https://doi.org/10.1002/mds.27352

Article  PubMed  Google Scholar 

Kirola L, Behari M, Shishir C, Thelma BK (2016) Identification of novel homozugous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism. Parkinsonism Relat Disord 31:124–128. https://doi.org/10.1016/j.parkreldis.2016.07.014

Article  PubMed  Google Scholar 

Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Paolo GD, Walker RH, Shahidi GA, Buxbaum JD, Camilli PD, Yue Z, Paisán-Ruiz C (2013) The Sac1 domains of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat 34(9)1200–7. https://doi.org/10.1002/humu.22372

Kumar S, Yadav N, Pandey S, Muthane UB,Govindappa ST, Abbas MM et al (2020) Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians.Parkinsonism Relat Disord 78:46–52. https://doi.org/10.1016/j.parkreldis.2020.07.014

Langmead B, Salzberg SL (2012) Fast gapped-read alignment with Bowtie 2. Nat Methods 4;9(4):357–9. https://doi.org/10.1038/nmeth.1923

Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, Viallet F, Tison F, Broussolle E, Emre M, Hanagasi H, Bilgic B, Tazir M, Djebara MB, Gouider R, Tranchant C, Vidailhet M, Le Guern E, Corti O, Mhiri C, Lohmann E, Singleton A, Corvol JC, Brice A; French Parkinson Disease Genetics Study Group (2020) Characterization of recessive Parkinson disease in a large multicenter study. Ann Neurol 88(4):843-850.https://doi.org/10.1002/ana.25787

Lesage S, Mangone G, Tesson C, Bertrand H, Benmahdjoub M, Kesraoui S, Arezki M, Singleton A, Corvol JC, Brice A (2021) Clinical variability of SYNJ1-associated early-onset Parkinsonism. Front Neurol 12:648457. https://doi.org/10.3389/fneur.2021.648457

Article  PubMed  PubMed Central  Google Scholar 

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup (2009) The sequence Alignment/Map format and SAMtools. Bioinformatics 25(16):2078-9.https://doi.org/10.1093/bioinformatics/btp352

Lubbe S, Morris HR (2014) Recent advances in Parkinson’s disease genetics. J Neurol 261(2):259–66. https://doi.org/10.1007/s00415-013-7003-2

Lubbe SJ, Bustos BI, Hu J, Krainc D, Joseph T, Hehir J, Tan M, Zhang W, Escott-Price V, Williams NM, Blauwendraat C, Singleton AB, Morris HR; for International Parkinson’s Disease Genomics Consortium (IPDGC) (2021) Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk. Hum Mol Genet 25;30(1):78–86. https://doi.org/10.1093/hmg/ddaa273

Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium (2016) Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet 15;25(24):5483–5489. https://doi.org/10.1093/hmg/ddw348

McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F (2016) The ensembl variant effect predictor. Genome Biol 17(1):122. https://doi.org/10.1186/s13059-016-0974-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

MDS gene (2024) https://www.mdsgene.org/, lastly accessed on May 22th 2024

Milosevic I, Giovedi S, Lou X, Raimondi A, Collesi C, Shen H, Paradise S, O’Toole E, Ferguson S, Cremona O, De Camilli P (2011) Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. Neuron 72(4):587–601. https://doi.org/10.1016/j.neuron.2011.08.029

Article  CAS  PubMed  PubMed Central  Google Scholar 

Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappatà S, Quarantelli M, Barone P, De Michele G, Bonifati V (2014) PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family. Neurogenetics 15(3):183–188. https://doi.org/10.1007/s10048-014-0406-0

Article  CAS  PubMed