MDS Virtual Congress 2020 » Parkinson's Disease: Genetics

A Fluctuating Qualitative Dermatoglyphic Trait, Dankmeijer’s and Furuhata’s Index as a Risk Marker in Diabetic Parkinson’s Patients of Guyana: A Case-Control Study

A. Jha, S. D'costa, W. White, M. Chapp, D. Kanhai (Managua, Nicaragua)

A large-scale full GBA1 gene screening in Parkinson’s disease in the Netherlands: 18 novel and 1 ‘Dutch’ variant

J. den Heijer, V. Cullen, M. Quadri, A. Schmitz, D. Hilt, P. Lansbury, H. Berendse, W. de Berg, R. de Bie, J. Boertien, A. Boon, M. Contarino, J. van Hilten, J. Hoff, T. van Mierlo, A. Munts, A. der Plas, M. Ponsen, F. Baas, D. Majoor-Krakauer, V. Bonifati, T. van Laar, G.J Groeneveld (Leiden, Netherlands)

A novel likely pathogenic SNCA variant associated with Parkinson’s disease

B. Minafra, G. Buongarzone, S. Gana, M.L Valente, I. Palmieri, T. Biagini, M. Plumari, M. Avenali, R. Zangaglia, T. Mazza, C. Cereda, C. Pacchetti, E.M Valente (Pavia, Italy)

ADAM10 polymorphisms are not associated with susceptibility to Parkinson’s disease and Parkinson’s disease with cognitive impairment in a Chinese cohort

P. Zhang, Y. Li, L.J Wang, Y.H Zhang (Guangzhou, China)

An introduction to the Global Parkinson’s Genetics Program (GP2)

C. Blauwendraat, E. Riley, A. Singleton (Bethesda, MD, USA)

Apolipoprotein E ε4 and risk of freezing of gait in early Parkinson’s disease

R. Kim, J.S Jun, H.J Kim, B.S Jeon (Incheon, Republic of Korea)

Association between SNCA and clinical phenotypes of Parkinson’s disease in southern Chinese

G. Li, SS. Cui, P. Huang, S.D Chen, YY. Tan (Shanghai, China)

Association between ZNF184 and symptoms of Parkinson’s disease in southern Chinese

B.Z Zhang, G.L Li (shanghai, China)

Association of Interleukin (IL)-2 and IL2RA gene polymorphisms with Parkinson’s disease in Taiwan

T. Liu, Y. Wu, Y. Chen, H. Fung, C. Chen (Taoyuan, Taiwan)

Beta-Glucocerebrosidase Activity in GBA-linked Parkinson’s Disease: The Type of Mutation Matters

Y.E Huh, M.S Chiang, J. Locascio, Z. Liao, G. Liu, K. Choudhury, Y. Kuras, I. Tuncali, A. Videnovic, A. Hunt, M. Schwarzschild, A. Hung, T. Herrington, M. Hayes, B. Hyman, A.M Wills, S. Gomperts, J. Growdon, S. Sardi, C. Scherzer (Boston, MA, USA)

Biomarker Discovery in Parkinson’s disease using Machine Learning on Public Multi-omic Datasets: A Pilot Study

M. Makarious, H. Iwaki, C. Blauwendraat, H. Leonard, S. Hashemi, J. Kim, K. Van Keuren-Jensen, D. Craig, E. Appelmans, L. Smolensky, M. Bookman, A. Singleton, F. Faghri, M. Nalls (Bethesda, MD, USA)

Blood alpha-synuclein profile and lysosomal alterations distinguish GBA1-related Parkinson’s disease from sporadic Parkinson’s disease

M.A Avenali, S.C Cerri, G.O Ongari, C.P Pacchetti, C.T Tassorelli, E.V Valente, F.B Blandini (Pavia, Italy)

Burden of variants in Parkinson’s disease-associated genes in GBA mutation carriers

Y.L Sosero, E. Yu, P. Saini, L. Krohn, U. Rudakou, J. Ruskey, F. Asayesh, M. Estiar, S. Fahn, C. Waters, O. Monchi, Y. Dauvilliers, A. Espay, N. Dupré, L. Greenbaum, G. Rouleau, S. Hassin-Baer, E. Fon, R. Alcalay, Z. Gan-Or (Montreal, QC, Canada)

Characterizing Global Cohorts with Monogenic Parkinson’s Disease

E.J Vollstedt, S. Schaake, M. Kasten, K. Lohmann, C. Klein (Lübeck, Germany)

Characterizing the genetic architecture of Parkinson’s disease in Latinos

D. Loesch, A. Horimoto, E. Sarihan, M. Cornejo-Oliva, L. Torres, M. Inca-Martinez, P. Mazzetti, C. Cosentino, E. Dieguez, V. Raggio, A. Lescano, V. Tumas, V. Borges, H. Ferraz, C. Rieder, A. Schumacher-Schuh, B. Lopes Santos-Lobato, C. Velez-Pardo, M. Jimenez-Del-Rio, F. Lopera, P. Chana-Cuevas, W. Fernandez, G. Arboleda, H. Arboleda, C. Arboleda-Bustos, D. Yearout, C. Zabetian, T. Thornton, T. O’Connor, I. Mata (Baltimore, MD, USA)

Clinical and genetic profile of Familial Parkinson´s disease in Cali – Colombia

J. Orozco Velez, B. Munoz Ospina, V. Quintana-Peña, J. Valderrama-Chaparro, Y. Castaño-Pino, D. Rincón, A. Navarro, I. Hernandez-Mata (Cleveland, OH, USA)

Contribution of coding/noncoding variants in NUS1 to late-onset sporadic Parkinson’s disease

L. Jiang, H. Pan, Y. Zhao, Q. Zeng, Z. Liu, Q. Sun, Q. Xu, J. Tan, X. Yan, J. Li, B. Tang, J. Guo (Changsha, China)

Cortical pathology in Glucocerebrosidase mutation carriers with anxiety: An MRI study

E. de Natale, H. Wilson, M. Politis (London, United Kingdom)

DJ1 and α-Synuclein as CSF biomarkers and gene polymorphisms: association with clinical parameters in Parkinson’s disease

T. Syed, T. SD, R. Kandadai, V. Kutala, R. Borgohain (Hyderabad, India)

Early predictors of Parkinson’s disease and prognosis in relatives

R. Matmurodov, K.h Khalimova, E. Abduqodirov (Tashkent, Uzbekistan)

Educating Spanish-Speaking Communities about Parkinson’s, Research Participation and Genetics: A Community Health Worker (Promotores) Model For Outreach

K. Schroeder, S. Osborne, D. Sperlakis, E. Mackenzie, I. Mata, C. Martinez (New York, NY, USA)

Effect of P2X4 Signal Axis on Iron Metabolism in Parkinson’s Disease Animal Model

A. Xie, J. Gao, J. Ma (Qingdao, China)

Enriched burden of rare coding variants in hereditary parkinsonism genes in Parkinson’s disease

Y. Kim, J. Lee, N. Kim, S. Hong, Y. Cho, J. Yoon (Seoul, Republic of Korea)

First clinical and genetic analysis of LRRK2 G2019S, R1441G/C/H/, I2020T and Y1699C mutations in Costa Rican patients with Parkinson’s disease

A. Hernandez-Guillen, T. Lobo-Prada, J. Ruiz-Martinez, A. Gorostidi-Pagola, Z. Gan-Or, K. Carazo-Cespedes, J. Fornaguera-Trias, G. Torrealba-Acosta (San José, Costa Rica)

GCH1 variants contribute to risk and earlier age at onset in Parkinson’s disease

Y. Zhao, H. Pan, Q. Sun, Q. Xu, X. Yan, J. Li, B. Tang, J. Guo (Changsha, China)

Genetic risk scores and hallucinations in Parkinson’s disease patients

C. Kusters, K. Paul, A. Duarte Folle, A. Keener, J. Bronstein, V. Dobricic, O.B Tysnes, L. Bertram, G. Alves, J. Sinsheimer, C. Lill, J. Maple-Grødem, B. Ritz (Los Angeles, CA, USA)

Genome-wide association studies of progression in Parkinson’s disease

M. Tan, M. Shoai, M. Lawton, S. Kanavou, N. Wood, J. Hardy, Y. Ben-Shlomo, N. Williams, M. Hu, D. Grosset, H. Morris (London, United Kingdom)

GPNMB protein levels in CNS are modulated by PD risk variant rs199347

Y. Seo, M. Diaz Ortiz, D. Weintraub, V. Van Deerlin, J. Trojanowski, A. Chen-Plotkin (Philadelphia, PA, USA)

GWAS on impulse control disorders in Parkinson’s disease

S. Bekadar, F.X Lejeune, F. Danjou, M. Vidailhet, M. Anheim, A. Elbaz, G. Alves, O.B Tysnes, A.H Erga, J. Maple-Grodem, A. Brice, J.C Corvol (Paris, France)

H1/H2 MAPT Haplotype and Parkinson’s Disease in an Ashkenazi Jewish Cohort

G. Yahalom, L. Greenbaum, S. Israeli-Korn, T. Fay-Karmon, V. Livneh, S. Hassin-Baer, Z. Gan-Or, J. Ruskey, E. Leveille, U. Rudakou, L. Krohn, G. Rouleau (Jerusalem, Israel)

Human induced pluripotent stem cells (iPSCs) as a model for the study of neural development in Parkinson’s Disease patients carrying GBA mutations

F. Motolese, A. Casamassa, A. Vescovi, V. Di Lazzaro, J. Rosati, M. Marano (Rome, Italy)

Identification of Parkinson’s disease predisposition genes in high-risk pedigrees

P. Moretti, K. Figueroa, S. Pulst, L. Cannon-Albright (Salt Lake City, UT, USA)

Impulsive Control Behaviours in Patients with GBA, PARK2 and without Mutations in Genes Associated to Parkinson’s Disease

P. Amami, T. De Santis, B. Garavaglia, A. Albanese (Rozzano, Italy)

Interest of multiplex ligation-dependent probe amplification assay to identify pathogenic mutations in Parkinson’s disease patients

E. Mutez, M. Swiderski, L. Defebvre, M.C Chartier-Harlin, V. Huin (Lille, France)

Is early-onset of levodopa-induced dyskinesia a predictor of GBA mutation? A next-generation sequencing study of young-onset Parkinson’s disease patients in Thailand

S. Thanprasertsuk, P. Phowthongkum, T. Hopetrungraung, C. Poorirerngpoom, T. Satirapatya, P. Wichit, O. Phokaewvarangkul, K. Vongpaisarnsin, S. Bongsebandhu-phubhakdi, R. Bhidayasiri (Bangkok, Thailand)

LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Detecting genetic and environmental modifiers of penetrance and disease expression

T. Usnich, N. Schell, E.J Vollstedt, V. Skrahina, X. Bogdanovic, N. Koleva-Alazeh, I. Csoti, T. Förster, A. Heuer, N. Brüggemann, P. Bauer, M. Kasten, A. Rolfs, C. Klein (Luebeck, Germany)

Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients and controls: the PPMI study

R. Alcalay, P. Wolf, M.R Chiang, K. Helesicova, X.K Zhang, K. Merchant, S. Hutten, C. Scherzer, C. Caspell-Garcia, C. Blauwendraat, K. Nudelman, T. Foroud, Z. Gan-Or, T. Simuni, L. Chahine, O. Levy, D. Zheng, G. Li, P. Sardi (NEW YORK, NY, USA)

LRRK2 p.G2019S and p.N2081D variants as modifiers of glucocerebrosidase activity

K. Senkevich, E. Yu, L. Krohn, U. Rudakou, J. Ruskey, F. Asayesh, K. Mufti, S. Laurent, D. Spiegelman, S. Fahn, C. Waters, P. Sardi, G. Rouleau, R. Alcalay, Z. Gan-Or (Montreal, QC, Canada)

Moderately frequent and private variants in PRKN are associated with late-onset Parkinson’s disease

F. Hopfner, S.M Müller, SS. Szymczak, O. Junge, L. Tittmann, S. May, K. Lohmann, G. Grallert, B. Schormair, J. Winkelmann, B. Mollenhauer, C. Trenkwalder, W. Maetzler, D. Berg, M. Kasten, C. Klein, G. Hoeglinger, T. Gasser, G. Deuschl, A. Franke, M. Krawczak, A. Dempfle, G. Kuhlenbäumer (Hannover, Germany)

mRNA level and variants of the SCARB2 gene in the pathogenesis of Parkinson’s disease

T. Usenko, A. Bezrukova, D. Bogdanova, A. Kopytova, A. Emelyanov, I. Miliukhina, A. Timofeeva, S. Pchelina (Gatchina, Russian Federation)

Neurodevelopmental disorder and parkinsonism in a patient with WDR45 variant: a long-term outcome

F. Manti, F. Nardecchia, S. Galosi, C. Panteghini, B. Garavaglia, V. Leuzzi (Rome, Italy)

Northwestern University Feinberg School of Medicine Parkinson’s disease and Movement Disorders Center Biorepository: bringing the clinic and lab together

A. Hernandez, S. Lubbe, T. Simuni, D. Bega, D. Krainc, N. Mencacci, R. Modiest, P. Opal, C. Taylor, N. Shetty, R. Malkani, J. Blackburn (Chicago, IL, USA)

NUS1 polymorphisms modify the risk and age at onset of Parkinson’s disease

L. Jiang, J. Mei, Y. Zhao, R. Zhang, H. Pan, Y. Yang, Q. Sun, Q. Xu, X. Yan, J. Tan, J. Li, B. Tang, J. Guo (Changsha, China)

Optic atrophy and parkinsonism in a family associated with OPA1 mutation

Y.T Hsu, S.P Liu, W.D Lin, C.H Tsai (Taichung, Taiwan)

PARK2 p.Ala82Glu variant is not associated with Parkinson’s disease

L. Milanowski, B. Broadway, F. Fiesel, D. Hoffman-Zacharska, D. Koziorowski, A. Friedman, J. Slawek, O. Ross, W. Springer, Z. Wszolek (Jacksonville, FL, USA)

Parkinson’s disease polygenic risk prediction and haplotype analysis in a South American cohort

D. Loesch, A. Horimoto, E. Sarihan, M. Cornejo-Olivas, L. Torres, M. Inca-Martinez, P. Mazzetti, C. Cosentino, E. Dieguez, V. Raggio, A. Lescano, V. Tumas, V. Borges, H. Ferraz, C. Rieder, A. Schumacher-Schuh, B. Lopes Santos-Lobato, C. Velez-Pardo, M. Jimenez-Del-Rio, F. Lopera, P. Chana-Cuevas, W. Fernandez, G. Arboleda, H. Arboleda, C. Arboleda-Bustos, D. Yearout, C. Zabetian, T. Thornton, T. O'Connor, I. Mata (Baltimore, MD, USA)

Parkinson’s disease polygenic risk score and brain structure in neurologically healthy individuals

N. Abbasi, L. Krohn, U. Vainik, Z. Gan-Or, A. Dagher (Montreal, QC, Canada)

Rare variants of the LRRK2 gene in the haplotype as one of the potential risk factors for endemic parkinsonism in a small isolated region in the Czech Republic

P. Kaňovský, K. Kolaříková, R. Vodička, R. Vrtěl, K. Menšíková, T. Bartoníková, M. Procházka (Olomouc, Czech Republic)

Sensitive biomarker of Parkinson’s disease linked to mutations in the glucocerebrosidase gene

S. Pchelina, M. Nikolaev, A. Kopytova, G. Baydakova, K. Senkevich, I. Miliukhina, T. Usenko, A. Emelyanov, E. Zakharova (St.Petersburg, Russian Federation)

Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson’s disease

J. Lee, P. Pinares-Garcia, H. Loke, S. Ham, E. Vilain, V. Harley (Clayton, Australia)

Significant hypometabolism in the posterior parietal cortex and precuneus in Parkinson’s disease with GBA mutations: [18F]FDG PET study

C. Lee, K. Park, S. Kim, B. Lee (Seoul, Republic of Korea)

SNPs in SNCA, MCCC1, DLG2, GBF1, and MBNL2 are associated with Parkinson’s disease in southern Chinese populations

A. Zhao, Y. Li, M. Niu, G. Li, N. Luo, L. Zhou, W. Kang, J. Liu (Shanghai, China)

Survival in Parkinson’s Disease and Association with MAPT and APOE

S. Kola, S. Armasu, D. Weis, O. Ross, D. Maraganore, A. Hassan (Rochester, MN, USA)

TET2-mediated Cdkn2A DNA hydroxymethylation in dopaminergic neuronal injury of Parkinson’s disease

Y.C Wu, TT. Wu, X. Li, T. Liu (Shanghai, China)

The ADNPC-RS: a risk score that identifies Lewy body disease individuals at risk for developing concomitant Alzheimer’s pathology

D. Dai, T. Tropea, J. Robinson, E. Suh, H. Hurtig, D. Weintraub, V. Van Deerlin, E. Lee, J. Trojanowski, A. Chen-Plotkin (Philadelphia, PA, USA)

The development and application of an adjunct genetic counseling pre-test assessment and video intervention for Parkinson’s disease (PD)

S. Elango, V. Katsnelson, D. Raymond, S. Rodriguez, T. Lin, N. Urval, R. Ortega, S. Bressman, R. Saunders-Pullman (New York, NY, USA)

The First-Ever CNV Analysis in Latin American Parkinson’s Disease Patients

E.I Sarihan, E. Pérez-Palma, L.M Niestroj, D. Loesch, M. Seyfi, M. Inca-Martinez, A. Horimoto, M. Cornejo-Olivas, L. Torres, P. Mazzetti, C. Cosentino, E. Dieguez, V. Raggio, A. Lescano, V. Tumas, V. Borges, H.B Ferraz, C. Rieder, A. Schumacher-Schuh, B.L Santos-Lobato, C. Velez-Pardo, M. Jimenez-Del-Rio, F. Lopera, P. Chana-Cuevas, W. Fernandez, G. Arboleda, H. Arboleda, C.E Arboleda-Bustos, D. Yearout, C.P Zabetian, T. Thornton, T.D O’Connor, D. Lal, I.F Mata (Cleveland, OH, USA)

The ROPAD (Rostock International Parkinson’s Disease Study) study: Towards defining the genetic epidemiology of the disease

V. Skrahina, H. Gaber, T. Förster, T. Usnich, N. Schell, P. Bauer, X. Bogdanovic, E. Vollstedt, N. Brüggemann, I. Csoti, M. Kasten, N. Koleva-Alazeh, C. Beetz, C. Klein, A. Rolfs (Rostock, Germany)

The study of the role of genetic risk factors in levodopa-induced dyskinesia development in Russian patients with Parkinson’s disease: a pilot study

G. Akhmadeeva, I. Khidiyatova, I. Gilyazova, A. Baitimerov, G. Tayupova, R. Magzhanov (Ufa, Russian Federation)

The variants of autophagy genes of early-onset Parkinson’s disease

H. Chang, E. Oh, J. Youn, J. Park, S. Kim, W. Jang (Daejeon, Republic of Korea)

Utility of multigene panel testing for diagnosing parkinsonism and dystonia in a large cohort of >500 patients

H. Zghal Elloumi, M. Stosser, A. Lindy (Gaithersburg, MD, USA)

Variants in the saposin D domain of prosaposin gene are linked to Parkinson’s disease

Y. Oji, T. Hatano, S. Ueno, M. Funayama, K. Ishikawa, A. Okuzumi, S. Noda, S. Sato, W. Satake, T. Toda, Y. Li, T. Hino-Takai, S. Kakuta, T. Tsunemi, H. Yoshino, K. Nishioka, T. Hattori, Y. Mizutani, T. Mutoh, F. Yokochi, Y. Ichinose, K. Koh, K. Shindo, Y. Takiyama, T. Hamaguchi, M. Yamada, M. Farrer, Y. Uchiyama, W. Akamatsu, J. Matsuda, Y. Wu, N. Hattori (Tokyo, Japan)

Virtual Assessment of LRRK2 Carriers to Optimize Research in Parkinson Disease (VALOR-PD): A Comparison to Traditional Cohorts

S. Jensen-Roberts, T. Myers, K. Amodeo, S. Sharma, R. Alcalay, E. Dorsey, R. Holloway, R. Schneider (Rochester, NY, USA)

Whole exome trio analysis in isolated population of southeast Moravia (Czech Republic) with familial parkinsonism suggests its heterogeneous genetic background

K. Menšíková, R. Vodička, K. Kolaříková, R. Vrtěl, J. Štellmachová, T. Bartoníková, M. Procházka, P. Kaňovský (Olomouc, Czech Republic)

Whole-exome sequencing in early-onset Parkinson’s disease among ethnic Chinese

N. Li, L. Wang, J. Zhang, E. Tan, J. Li, J. Peng, L. Duan, C. Chen, D. Zhou, L. He, R. Peng (Chengdu, China)