MDS Virtual Congress 2021 » Parkinson's Disease: Genetics

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson’s disease

C. Fevga, Y. Park, E. Lohmann, A J. Kievit, G J. Breedveld, F. Ferraro, L. de Boer, R. van Minkelen, H. Hanagasi, A. Boon, W. Wang, G A. Petsko, Q Q. Hoang, M. Emre, V. Bonifati (Rotterdam, Netherlands)

Analysis of the HLA locus in isolated REM sleep behavior disorder and Lewy body dementia

E. Yu, L. Krohn, J. Ruskey, F. Asayesh, S. Laurent, D. Spiegelman, Z. Shah, I. Arnulf, M. Hu, J. Montplaisir, JF. Gagnon, A. Desautels, Y. Dauvilliers, G. Gigli, M. Valente, F. Janes, A. Bernardini, B. Högl, A. Stefani, A. Ibrahim, K. Sonka, D. Kemlink, W. Oertel, A. Janzen, G. Plazzi, E. Antelmi, M. Figorilli, M. Puligheddu, B. Mollenhauer, C. Trenkwalder, F. Sixel-Döring, V. Cochen, C. Monaca, A. Heidbreder, L. Ferini-Strambi, F. Dijkstra, M. Viaene, B. Abril, B. Boeve, G. Rouleau, R. Postuma, S. Scholz, Z. Gan-Or (Montreal, Canada)

Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: a Surgicogenomic Approach

N. Visanji, M. Ghani, E. Yu, E. Kakhki, C. Sato, D. Moreno, T. Naranian, YY. Poon, M. Abdollahi, M. Naghibzadeh, R. Rajalingam, A. Lozano, S. Kalia, M. Hodaie, M. Cohn, M. Statucka, A. Boutet, G. Elias, J. Germann, R. Munhoz, A. Lang, Z. Gan-Or, E. Rogaeva, A. Fasano (Toronto, Canada)

Blood-based circulating microRNAs for discriminating between Parkinson’s disease subtypes

MT. Periñán, P. Gómez-Garre, S. Jesús, D. Buiza-Rueda, MV. Jimenez-Jaraba, D. Macías-García, AD. Adarmes-Gómez, P. Mir (Seville, Spain)

Building a Global Parkinson’s Genetics Program (GP2): Clinical Cohorts Integration Working Group

J. Joubert, M. Tan, T. Antar, A. Martinez-Carrasco, H. Iwaki, H. Morris, GP2. Genetics Program (London, United Kingdom)

Clinical and genetic analysis of psychosis in Parkinson’s disease

B. Radojević, N. Dragašević, A. Milovanović, V. Dobričić, M. Svetel, I. Petrović, M. Savić, I. Jančić, D. Stanisavljević, A. Marjanović, M. Branković, V. Kostić (Belgrade, Serbia)

Comprehensive analysis of PRKN in a large Parkinson’s Disease cohort identifies causative mutations and validates population scale screening by microarray

W. Zhu, X. Huang, E. Yoon, S. Bandres-Ciga, C. Blauwendraat, J. Cade, B. Wu, J. Brooks, J. Gibbs, D. Hernandez, D. Ehrlich, A. Singleton, D. Narendra (Bethesda, USA)

Digenic R1441G-LRRK2 and Parkin mutations in Parkinson’s Disease: first clinicopathological case report.

D. Campo-Caballero, A. Vinagre-Aragón, JF. Martí-Massó, A. Bergareche, A. Gorostidi, R. Ruiz-Onandi, J. Rodríguez-Antigüedad, J. Equiza, P. Iruzubieta-Agudo, I. Albajar, N. Sulibarria, J. Ruiz-Martinez (San Sebastián, Spain)

East Asian Parkinson’s Disease Genomics Consortium – An introduction

K. Mok (London, United Kingdom)

EIF4G1 gene variants in a family affected by Parkinson´s disease

C. Borrue (San Sebastián Reyes, Spain)

Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))

M. Mata, C. Jimeno (Madrid, Spain)

GBA variants in a multi-ethnic Parkinson’s disease (PD) cohort in Malaysia

JL. Lim, K. Lohmann, AH. Tan, YW. Tay, KA. Ibrahim, Z. Abdul Aziz, AS. Mawardi, S. Datuk Puvanarajah, I. Looi, YK. Chia, TT. Lim, P. Bauer, A. Rolfs, C. Klein, A. Ahmad-Annuar, S-Y. Lim (Kuala Lumpur, Malaysia)

Genetic factors associated with dementia in Parkinson’s disease in the Parkinson’s Incidence Cohorts Collaboration (PICC)

A. Szwedo, I. Dalen, M. Camacho, R. Lawson, D. Bäckström, L. Forsgren, C. Tzoulis, OB. Tysnes, A. Macleod, C. Counsell, C. Williams-Gray, KF. Pedersen, G. Alves, J. Maple-Grødem (Stavanger, Norway)

Genotype-phenotype relations for GBA as a Parkinson’s disease risk factor gene: MDSGene Systematic Review

T. Usnich, M. Rossi, N. Schell, J. Boehm, N. Steffen, S. Petkovic, S. Schaake, R. Alcalay, K. Lohmann, C. Klein (Lübeck, Germany)

Genotypic and phenotypic spectrum of PINK-1 associated parkinsonism in 44 mutation carriers from 11 Tunisian families

G. El Fessi, Z. Saied, F. Nebli, M. Zouari, S. Belal, S. Ben Sassi (Tunis, Tunisia)

Glucocerebrosidase activity does not predict Parkinson’s Disease risk or severity

N. Omer, N. Giladi, T. Gurevich, A. Bar-Shira, M. Gana-Weisz, T. Glinka, O. Goldstein, M. Kestenbaum, J. Cedarbaum, O. Mabrouk, K. Fraser, J. Shrivan, A. Orr-Urtreger, A. Mirelman, A. Thaler (Tel-Aviv, Israel)

GP2: training the next generation of Parkinson’s disease genetics researchers – wherever they are in the world

S. Dey, A. Noyce, C. Bale, M. Kuhl, H. Leonard, P. Lewis, S. Stott, S. Adams, A. Martinez-Carrasco, B. Stecher, S. Bandres-Ciga, G. Genetics Program (London, United Kingdom)

Gut dysbiosis in Parkinson’s disease with motor complications

K. Takahashi, H. Nishiwaki, M. Ito, K. Iwaoka, K. Yamahara, K. Takahashi, Y. Suzuki, K. Taguchi, Y. Tsuboi, K. Kashihara, M. Hirayama, K. Ohno, T. Maeda (Shiwa, Japan)

Homozygous PRKN exon 3 deletion in an early-onset Parkinson’s disease family from the Kadazan-Dusun ethnic group indigenous to Sabah, Malaysia

YW. Tay, JL. Lim, YK. Chia, AH. Tan, SY. Lim, A. Ahmad-Annuar (Kuala Lumpur, Malaysia)

HYPERSEXUAL DISORDER IN GBA-ASSOCIATED PARKINSON’S DISEASE: CASE REPORT

M. Montenegro, C. Malcher, V. Cardoso, A. Escudeiro, A. Silva, B. Santos-Lobato (Belém, Brazil)

Identification of a new Homozygous mutation P.R258Q In the gene SYNJ1 of an Algerian consanguine (inbred) Family suffering from early onset atypical Parkinsonism

M. Benmahdjoub, N. Nesrine, S. Bouchetara, A. Bessad, S. Lesage, A. Brice, M. Arezki, S. Kesraoui (Blida, Algeria)

Increased stroke risk in Parkinson’s disease patients with LRRK2 mutations

D. Macias-Garcia, MT. Periñán, L. Muñoz-Delgado, S. Jesús, MV. Jimenez-Jaraba, D. Buiza-Rueda, M. Bonilla-Toribio, A. Adarmes-Gomez, F. Carrillo, P. Gómez-Garré, P. Mir (Seville, Spain)

Interrogating Parkinson’s disease associated mutations at single cell resolution

EGY. Chew, YJ. Heng, M. Lian, M. Tandiono, E. Dempster, S. Policicchio, J. Mill, R. Reynolds, JN. Foo (Singapore, Singapore)

Investigating LRRK2 and GBA genetic variability in underrepresented populations

C. Paisan-Ruiz, V. Katsnelson, N. Urval, R. Ortega, A. Debebe, I. Peter, S. Bressman, R. Saunders-Pullman (New York, USA)

Lack of diversity in Parkinson’s disease genetic research: current landscape and future directions

A. Schumacher-Schuh, A. Bieger, M. Strelow, O. Okunoye, K. Mok, A. Ahmad-Annuar, S. Bardien, S-Y. Lim, S. Rao, Y. Zewde, S. Dindayal, J. Azar, S. Lesage, I. Mata, GP2. Genetics Project (Porto Alegre, Brazil)

LIPAD (LRRK2/Luebeck) International Parkinson’s Disease Study: Protocol and feasibility study

T. Usnich, EJ. Vollstedt, N. Schell, V. Skrahina, X. Bogdanovic, H. Gaber, T. Förster, A. Heuer, N. Koleva-Alazeh, I. Csoti, A. Nazli Basak, S. Ertan, G. Genc, P. Bauer, K. Lohmann, A. Grünewald, E. Schymanski, J. Trinh, S. Schaake, D. Berg, D. Gruber, S. Isaacson, A. Kühn, B. Mollenhauer, D. Pedrosa, K. Reetz, E. Sammler, EM. Valente, F. Valzania, J. Volkmann, S. Zittel, N. Brüggemann, M. Kasten, A. Rolfs, C. Klein (Lübeck, Germany)

Lysosomal storage disorder genes variants in Parkinson’s disease: a large cohort study in Chinese mainland population

Y. Zhao, H. Pan, Y. Wang, Z. Liu, Q. Zeng, Z. Fang, K. Xu, Z. Wang, X. Zhou, R. He, B. Li, G. Zhao, Q. Xu, Q. Sun, X. Yan, J. Tan, J. Li, J. Guo, B. Tang (Changsha, China)

Methylation status of SNCA gene in multiple system atrophy and Parkinson’s disease

E. Iakovenko, N. Abramycheva, E. Fedotova, S. Illarioshkin (Moscow, Russian Federation)

Monogenic Hub of the Global Parkinson’s Genetics Program (GP2): The 500-genomes pilot project

L. Lange, K. Lohmann, EM. Valente, SY. Lim, AH. Tan, EJ. Vollstedt, M. Avenali, H. Madoev, P. Heutink, K. Kumar, N. Mencacci, C. Klein (Luebeck, Germany)

Monogenic Portal of the Global Parkinson’s Genetics Program (GP2)

SY. Lim, LM. Lange, H. Madoev, KR. Kumar, AH. Tan, M. Avenali, P. Heutink, EJ. Vollstedt, K. Lohmann, N. Mencacci, C. Klein, EM. Valente (Kuala Lumpur, Malaysia)

Mutations in GBA and LRRK2 are not associated with increased inflammatory markers

A. Thaler, N. Omer, N. Giladi, T. Gurevich, A. Bar Shira, O. Goldstein, M. Gana-Weisz, M. Kestenbaum, J. Shirvan, J. Cedarbaum, A. Orr-Urtreger, S. Shenhar-Tsarfaty, A. Mirelman (Tel-Aviv, Israel)

Nanopore single-molecule sequencing to investigate mitochondrial DNA CpG methylation in Parkinson’s disease

T. Lüth, K. Wasner, C. Klein, S. Schaake, R. Tse, S. Pereira, J. Laß, L. Sinkkonen, A. Grünewald, J. Trinh (Lübeck, Germany)

Novel PLA2G6 Mutation Presenting as Early-Onset Parkinson’s Disease

J. Hislop, E. Saraf Lavi, D. Barbouth, M. Foley, H. Moore, C. Singer (Miami, USA)

Parkin Mutation and Deep Brain Stimulation

E. Erdil, H. Omercikoglu, F. Bayraklı, D. Gunal (Istanbul, Turkey)

Parkinson’s Families Project: analysis of a large cohort of patients with early onset and familial Parkinson’s disease

C. Towns, M. Tan, M. Pollard, S. Cable, L. Wu, R. Real, H. Morris (London, United Kingdom)

Parkinson’s-disease risk variants are differentially associated with discrete phenotypic characteristics of Parkinson’s-disease at baseline.

B. Chase, A. Premkumar, B. Schoneburg, N. Kartha, J. Wei, H. Yu, A. Epshteyn, L. Garduno, A. Pham, R. Vazquez, R. Frigerio, D. Maraganore, K. Markopoulou (Skokie, USA)

Parkinsonism in individuals with genetic neurodevelopmental disorders: A systematic review

E. Scheibler, M. Kuijf, T. Koning, J. Zinkstok, A. Muller, T. Amelsvoort, A. Eeghen, E. Boot (Amersfoort, Netherlands)

Providing Genetic Testing and Genetic Counseling to the Parkinson’s Disease Community: the PD GENEration Pilot Study Experience

L. Cook, J. Verbrugge, J. Schulze, T. Schwantes-An, A. Chan, J. Beck, A. Naito, A. Hall, K. Marder, M. Nance, M. Schwarzschild, T. Simuni, A-M. Wills, R. Alcalay (Indianapolis, USA)

Rare Neurodegenerative Phenotypes in Patients Carrying Homozygous GBA1 Mutations

G. Lopez, N. Tayebi, M. Hallett, A. Zimran, P. Kishnani, E. Sidransky (Bethesda, USA)

Rare UQCRC1 variants in Chinese patients with Early Onset Parkinson’s Disease

XJ. Gu, YB. Hou, YP. Chen, RW. Ou, HF. Shang (Chengdu, China)

Reduced serum PRDX3 levels are a biomarker for Asian LRRK2 carriers in Parkinson’s disease

YJ. Tan, ZH. Lu, EYL. Ng, SYE. Ng, NSY. Chia, ACW. Yong, XY. Choi, DD. Heng, S. Neo, ZY. Xu, KY. Tay, WL. Au, LCS. Tan, EK. Tan, ASL. Ng (Singapore, Singapore)

Remote assessment of prodromal Parkinson’s disease in a LRRK2 G2019S cohort

J. Soto, S. Jensen-Roberts, T. Meyers, M. Pawlik, J. Moore, A. Sarkar, R. Wilson, P. Auinger, E. Dorsey, B. Valdovinos, K. Amodeo, S. Sharma, R. Holloway, H. Rowbotham, E. Chanoff, P. Cannon, R. Alcalay, R. Schneider (Rochester, USA)

Serial DaT-SPECT imaging in asymptomatic carriers of LRRK2 G2019S mutation: 8-years follow-up

A. Sánchez Rodríguez, I. Martínez Rodríguez, M. Sierra, P. Sánchez Juan, I. González Aramburu, M. Rivera Sánchez, J. Andrés Pacheco, A. Gutiérrez-González, O. Cuenca-Vera, J. Madera, A. García-Hernández, J. Infante (Santander, Spain)

SHBG, and possibly testosterone, are associated with the risk for Parkinson’s disease among women: a Mendelian randomization approach

C. Kusters, K. Paul, A. Duarte Folle, A. Keener, J. Bronstein, L. Bertram, J. Hansen, S. Horvath, J. Sinsheimer, C. Lill, B. Ritz (Los Angeles, USA)

SRY as a potential therapeutic target for men with Parkinson’s Disease

V. Harley (Clayton, Australia)

Stratified genome-wide association study revealed novel interactions for the top hit Parkinson’s disease loci.

K. Senkevich, S. Bandres-Ciga, E. Yu, L. Krohn, Z. Gan-Or (Montreal, Canada)

The application of Next Generation Sequencing in the Parkinson Disease.

E C. Chebbi (Tunis, Tunisia)

The Commercial Genetic Testing Landscape for Parkinson’s Disease

L. Cook, J. Schulze, J. Verbrugge, C. Klein, A. Naito, R. Alcalay (Indianapolis, USA)

The Global Parkinson’s Genetics Program (GP2) – a year’s progress

C. Blauwendraat, A. Noyce, A. Reimer, B. Casey, E. Riley, B. Fiske, M. Rizig, J. Hardy, T. Foroud, K. Murphy, N. Wood, C. Wegel, A. Brice, S. Fox, P. Heutink, R. Krueger, N. Williams, T. Gasser, K. Mok, M. Sharma, K. Marek, T. Sherer, N. Mata, M. Nalls, E. Valente, H. Morris, C. Klein, A. Singleton, T. He-Global-Parkinson’S-Genetics-Program-(gp2) (Bethesda, USA)

The Global Parkinson’s Genetics Program (GP2) Underrepresented Populations Working Group

AF. Schumacher-Schuh, S-Y. Lim, O. Okunoye, S. Bandres-Ciga, P. Heutink, H. Iwaki, R. Kruger, K. Mok, A. Noyce, NU. Okubadejo, M. Rizig, R. Rajan, LK. Prashanth, M. Sharma, J. Shulman, B. Siddiqi, S. Bardien, IF. Mata, GP2. Genetics Project (Porto Alegre, Brazil)

The lack of association between UQCRC1 and Parkinson’s disease in a southwest Chinese population

N. Li, J. Li, J. Peng, L. Duan, C. Chen, R. Peng (Chengdu, China)

The MJFF Global Genetic Parkinson’s Disease Research Resource

EJ. Vollstedt, JO. Aasly, B. Al Mubarak, R. Alcalay, V. Alvarez, I. Amorin, G. Annesi, D. Arkadir, M. Barkhuizen, D. Berg, V. Bonifati, A. Boon, L. Brighina, K. Brockmann, A. Carmine Belin, J. Carr, J. Clarimon, M. Cornejo-Olivas, JC. Corvol, D. Crosiers, J. Damasio, P. Das, P. Carvalho Aguiar, A. de Rosa, J. Dorszewska, S. Ertan, R. Ferese, J. Ferreira, E. Gatto, N. Giladi, H. Hanagasi, N. Hattori, F. Hentati, S. Illarioshkin, J. Jankovic, P. Klivenyi, V. Kostic, D. Koziorowski, A. Lang, SY. Lim, CH. Lin, K. Lohmann, M. Martikainen, G. Mellick, M. Merello, P. Mir, M. Pimentel, T. Pulkes, A. Puschmann, E. Sammler, M. Skaalum Petersen, M. Skorvanek, M. Spitz, L. Stefanis, O. Suchowersky, V. Tumas, EM. Valente, B. de Warrenburg, C. Williams-Gray, R. Wu, B. Zhang, A. Zimprich, C. Klein (Luebeck, Germany)

The study of genetic factors in motor levodopa-induced complications development in Russian patients with Parkinson’s disease

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

Ultrastructural Characterization of Monocytes in Parkinson’s Disease and GBA mutations

GM. Riboldi, S. Dilipkumar, A. Sowa, A. Allen, K. Astudillo, J. Crary, S. Frucht, T. Raj, W. Janseen (New York, USA)

Using a Dopamine Genetic Risk Score to Predict Impulse Control Behaviours for Parkinson’s Disease Patients

A. Hall, N. Jenkinson, H. Macdonald (Birmingham, United Kingdom)

Utility of the long-read single-molecule nanopore sequencing for detection of repeat number and epigenetic modifications relevant for X-linked dystonia-parkinsonism

J. Laß, T. Lüth, S. Schaake, J. Pozojevic, A. Westenberger, J. Trinh, C. Klein (Lübeck, Germany)

α-Synuclein in sympathetic nerve fibers distinguishes PRKN from LRRK2 and other genetic forms of Parkinson’s Disease

R. Isonaka, D. Goldstein, W. Zhu, E. Yoon, D. Ehrlich, A. Schindler, A. Kokkinis, M. Sabir, S. Scholz, S. Bandres-Ciga, C. Blauwendraat, P. Gonzalez-Alegre, G. Lopez, E. Sidransky, D. Narendra (Bethesda, USA)