2023 International Congress » Parkinson's Disease: Genetics

A benign course of Parkinson’s disease associated with different mutations in the glucocerebrosidase gene – a case series

G. Yahalom, A. Faust-Socher, M. Cohen, Y. Schechter, M. Becker-Cohen, R. Eichel, S. Revel-Vilk, A. Zimran (Jerusalem, Israel)

A newly implemented NGS-based method to detect GBA1 variants in patients with Parkinson’s disease

E. Monfrini, I. Palmieri, G. Cuconato, M. Percetti, P. Cortelli, A. Di Fonzo, EM. Valente (Milano, Italy)

A strategic training framework for building research capacity in the Global Parkinson’s Genetics Program (GP2)

MT. Periñan, S. Dey, C. Bale, M. Kuhl, H. Leonard, P. Lewis, S. Stott, MB. Makarious, A. Martinez-Carrasco, AJ. Noyce, S. Bandres-Ciga, GP2. Genetics Program (Seville, Spain)

An SNCA triplication in a Kazakhstani patient with young-onset Parkinson’s disease

R. Kaiyrzhanov, C. Shashkin, N. Zharkinbekova, V. Akhmetzhanov, Z. Myrzayev, A. Karimova, S. Aidarov, K. Mok, H. Houlden (Shymkent, Kazakhstan)

Analysis of α-Synuclein Seed Amplification Assay in Carriers of GBA and LRRK2 Pathogenic Variants

K. Fraser, A. Mirelman, O. Mabrouk, N. Omer, L. Concha-Marambio, T. Gurevich, A. Bar Shira, M. Gana-Weisz, O. Goldstein, A. Orr-Urtreger, M. Kestenbaum, J. Cedarbaum, T. Dam, J. Shirvan, N. Giladi, D. Graham, R. Alcalay, A. Thaler (Cambridge, USA)

Apolipoprotein E e4 genotype affects early motor progression in Parkinson’s disease through an effect on cognition

M. Gevertzman, A. Hooyman, J. Longhurst, M. Landers (Las Vegas, USA)

Are GBA–Parkinson Disease patients’ good candidates for Deep Brain Stimulation? A Longitudinal Multicentric study on a Large Italian Cohort

M. Avenali, R. Zangaglia, G. Cuconato, I. Palmieri, A. Albanese, CA. Artusi, M. Bozzali, F. Cavallieri, R. Cilia, A. Cocco, R. Eleopra, A. Imarisio, G. Imbalzano, C. Ledda, L. Lopiano, M. Malaguti, F. Mameli, P. Mitrotti, F. Spagnolo, C. Tassorelli, F. Valentino, F. Valzania, A. Di Fonzo, C. Pacchetti, EM. Valente (Pavia, Italy)

Associations of IL-1β and IL-6 gene polymorphisms with Parkinson’s disease(PD)

M. Ben Mahmoud, S. Fray, H. Jamoussi, N. Ben Ali, M. Fredj, S. Fezai (Tunis)

Autosomal dominant Parkinson’s disease caused by SNCA p.E46K variant in family with Russian ancestry: A case report

K. Senkevich, I. Miliukhina, A. Zhuravlev, M. Shumilova, M. Beletskaia, A. Tyurin, M. Grunina, A. Rybakov, J. Ahmad, F. Asayesh, A. Timofeeva, Z. Gan-Or, A. Emelyanov, S. Pchelina (Montreal, Canada)

Caffeine Intake Interacts with Gene Variants in Parkinson’s disease

E. Tan, Y. Ong, X. Deng, H. Li, D. Heng, K. Narasimhalu, L. Chan, P. Kumar, W. Au, P. Ratnagopal, L. Tan (Singapore, Singapore)

Cardiovascular autonomic function in GBA-associated Parkinson’s disease: a cross-sectional study

T. de Santis, A. Cocco, P. Polverino, V. Polvere, EM. Valente, A. Albanese (Rozzano, Italy)

Caveats regarding a family with PD and LRRK2 mutations

P. Ferreira, A. Ferreira, D. Fitas, S. Moreira, M. Calejo (Senhora da Hora, Portugal)

Classification and genotype-phenotype relationships of GBA1 variants and Parkinson’s disease: MDSGene Systematic Review

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

Clinal comprehensive Next-gen gene panel for Parkinson’s Disease

Z. Niu, E. Lauer, S. Roellinger, L. Hasadsri, O. Ross, R. Savica (Rochester, USA)

Clinical and genetic profile of fifteen patients with PARK-PRKN: A largest single-center cohort from India.

V. Holla, S. Kamath, P. Phulpagar, N. Kamble, B. Muthusamy, R. Yadav, P. Pal (Bengaluru, India)

Clinical characterization of Parkinson’s disease patients with LRRK2 mutation: Insights from a Portuguese reference center

JM. Alves, MR. Almeida, C. Machado, F. Moreira, A. Morgadinho (Coimbra, Portugal)

Clinical Prediction of GBA Carrier Status in Parkinson’s Disease

J. Greenberg, K. Astudillo, S. Frucht, A. Flinker, G. Riboldi (New York, USA)

Clinico-genetic analysis of patients with Parkinson’s disease and GBA mutations from a tertiary care teaching centre in India

S. Kamath, V. Holla, P. Phulpagar, N. Kamble, R. Yadav, B. Muthusamy, PK. Pal (Bangalore, India)

Cognitive assessment of Parkinson’s disease carriers of the novel p.A30G mutation in the SNCA gene

C. Koros, I. Alefanti, AM. Simitsi, A. Bougea, N. Papagiannakis, R. Antonelou, C. Kartanou, M. Bozi, I. Pachi, S. Varvaresos, A. Zahou, E. Stanitsa, M. Kodounis, M. Maniati, M. Panas, G. Paraskevas, S. Papageorgiou, C. Potagas, G. Karadima, G. Koutsis, L. Stefanis (Athens, Greece)

Combined effect of polygenic background and GBA Pathogenic variants in Parkinson’s disease risk

Z. Landoulsi, E. Hassanin, S. Pachchek, DB. Bobbili, P. May (Esch-sur-Alzette, Luxembourg)

Detection and classification of GBA variants PD-related: is there sex unbalance?

C. Reale, C. Panteghini, I. Colangelo, M. Suerz, R. Cilia, R. Eleopra, B. Garavaglia, F. Invernizzi (Milan, Italy)

Diffusion Tensor Imaging in GBA-related Parkinson’s disease

R. Dayan, A. Bick, C. Muller, N. Levin, D. Arkadir (Jerusalem, Israel)

DNA Methylation is associated with gene expression changes in sporadic Parkinson Disease in the PPMI cohort.

P. Gonzalez-Latapi, B. Bustos, T. Simuni, S. Lubbe, D. Krainc (Chicago, USA)

Dopamine Receptor Gene Polymorphism in L-Dopa Induced Dyskinesia- A Study from Eastern India

S. Sarkar, S. Choudhury, S. Ansari, R. Banerjee, S. Dey, H. Kumar (Kolkata, India)

Dopamine-responsive x-linked parkinsonism-epilepsy due to phosphoglycerate kinase-1 deficiency

J. Parmera, T. Guimarães, R. Cury, F. Freua, E. Barbosa, F. Kok (São Paulo, Brazil)

Effect of Sex on the association between GBA mutations and Cognitive Decline in Parkinson’s Disease

SP. Caminiti, M. Avenali, M. Inglese, C. Tassorelli, D. Perani (Pavia, Italy)

Epigenome-wide meta-analysis of sex-differential DNA methylation in Parkinson’s disease

T. Yang, C. Li, Q. Wei, R. Ou, Y. Cheng, K. Liu, J. Lin, Y. Xiao, H. Shang (Chengdu, China)

Evaluation of possible pre-motor symptoms of Parkinson’s disease in a GBA-mutation positive cohort, as well as Gaucher disease patients.

L. Brodin, P. Svenningsson (Stockholm, Sweden)

Evaluation of small extracellular vesicles derived miRNA as biomarkers for Parkinson’s disease: comparison with plasma miRNA

S. Rai, P. Bharti, R. Singh, R. Rajan, S. Kumar (New Delhi, India)

Exome-wide contribution of ultra-rare variants to the genetic architecture of Parkinson’s disease and Cutaneous Malignant Melanoma

B. Bustos, T. Krainc, Z. Gan-Or, C. Cruchaga, B. Benitez, T. Bishop, H. Morris, S. Lubbe (Chicago, USA)

First case of sporadic ATP6AP2 Mutation reported in Asia in a Parkinson’s Disease patient

K. Shukla, N. Sawal (Chandigarh, India)

GBA haplotypes and age at onset of Parkinson’s disease in the Asian population

C. Li, R. Ou, Y. Hou, Q. Wei, L. Zhang, K. Liu, J. Lin, X. Chen, W. Song, B. Zhao, Y. Wu, H. Shang (Chengdu, China)

GBA p.K198E mutation causing Parkinson Disease in Colombian population: the first clinical description

L. Quintero-Giraldo, C. Moreno-López, C. Cerquera-Cleves (Bogota, Colombia)

Gene-environment interactions for Parkinson’s disease

R. Torricelli, A. Reynoso, B. Jacobs, J. Shi, S. Aslibekyan, L. Kaufmann, A. Noyce, K. Heilbron (London, United Kingdom)

Genetic and functional analysis of CCDC88C mutations in patients with Parkinson’s disease.

S. Chen, J. Chen, X. Xie, W. Luo (Hangzhou, China)

Genetic outcomes of South Asian Parkinsonism cohort: from a tertiary care hospital

P. Paramanandam, A. S, A. Deenadayalu, I. N, K. Gowrishankar, T. Koshy (Chennai, India)

Genetic profile of early-onset Parkinson’s Disease patients at a movement disorders center in Brazil

M. Costa, A. Pessoa-Neto, F. Sarmento, G. Lima, C. Silva, L. Barcelos, P. Aguiar, S. Azevedo, V. Borges, H. Ferraz (São Paulo, Brazil)

Genetic study of early-onset Parkinson’s disease in the Malaysian population

YW. Tay, AH. Tan, JL. Lim, K. Lohmann, K. Azmi Ibrahim, Z. Abdul Aziz, YT. Chin, AS. Mawardi, TT. Lim, I. Looi, YK. Chia, JCE. Ooi, WK. Cheah, A. Dy Closas, LC. Lit, JW. Hor, TS. Toh, K. Muthusamy, P. Bauer, V. Skrahin, A. Rolfs, C. Klein, A. Ahmad-Annuar, SY. Lim (Kuala Lumpur, Malaysia)

Genetic subtypes of Parkinson’s disease in a Colorado clinic

M. Lafreniere, G. Bosma, E. Forbes (Aurora, USA)

Genetics of Neurogenic Orthostatic Hypotension in Parkinson’s Disease

G. Chevalier, L. Udovin, M. Otero-Losada, S. Bordet, F. Capani, S. Luo, C. Goetz, S. Perez-Lloret (Buenos Aires, Argentina)

Genetics of Parkinson’s Disease in Polish patients with positive family history-preeliminary study.

L. Milanowski, D. Hoffman-Zacharska, M. Geremek, S. Szlufik, A. Friedman, D. Koziorowski (Warsaw, Poland)

Genome Wide Association Studies using TRACTOR reveals new associated loci with Parkinson Disease in a Latino Cohort

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

Genome-wide association identifies novel etiological insights associated with Parkinson’s Disease in African and African admixed populations

M. Rizig, S. Bandres Ciga, M. Makarious, O. Ojo, O. Okunoye, K. Levine, E. Sidransky, N. Tayebi, P. Wild Crea, C. Blauwendraat, H. Houlden, J. Hardy, A. Singleton, N. Okubadejo (London, United Kingdom)

Harmonizing genetic testing for early-onset Parkinson’s disease: results of the PARKNET multicentric study

M. Percetti, E. Monfrini, I. Palmieri, A. Albanese, M. Avenali, A. Bartoletti-Stella, F. Blandini, G. Brescia, G. Calandra-Buonaura, R. Campopiano, S. Capellari, I. Colangelo, G. Comi, G. Cuconato, R. Ferese, C. Galandra, S. Gambardella, B. Garavaglia, A. Gaudio, E. Giardina, F. Invernizzi, P. Mandich, R. Mineri, C. Panteghini, C. Reale, L. Trevisan, S. Zampatti, P. Cortelli, E. Valente, A. Di Fonzo (Milano, Italy)

Impacts of mutations in Parkinson’s disease-related genes on telomere maintenance

YH. Chen, CH. Lin, CK. Tseng (Taipei, Taiwan)

Informing people with Parkinson’s disease of their gene variant status: PD GENEration, a North American observational and registry study

L. Cook, J. Verbrugge, T. Schwantes-An, T. Foroud, A. Hall, K. Marder, I. Mata, N. Mencacci, M. Nance, M. Schwarzschild, T. Simuni, A-M. Wills, S. Rao, K. Ghosh Galvelis, A. Naito, J. Beck, R. Alcalay (Indianapolis, USA)

Integrative analysis of fecal metabolomics and metagenomics for Parkinson’s disease

Y. Qian, S. Xu, X. He, Y. Lai, Y. Zhang, C. Mo, P. Ai, X. Yang, Q. Xiao (Shanghai, China)

Investigate the association of MAPT haplotype and neuroanatomical structure and its influence on the risk of Parkinson’s disease

E. Yu, C. Tremblay, A. Vo, Y. Sosero, Z. Gan-Or, A. Dagher, L. Liu ()

Iron deposition and volume change of deep grey matter nuclei in PARK14 by Quantitative Susceptibility Mapping

C. Chen, X. Liu, F. Liu, Y. Sun, J. Wang (Shanghai, China)

Longitudinal change in clinical characteristics of LRRK2 carriers in a remote cohort

S. Lettenberger, P. Auinger, R. Wilson, E. Hartman, M. Pawlik, M. Khokhar, E. Dorsey, B. Valdovinos, S. Sharma, R. Holloway, C. Tanner, R. Alcalay, R. Schneider (Rochester, USA)

Longitudinal clinical and biomarker characteristics of non-manifest GBA1 N409S carriers: the PPMI cohort

P. Gonzalez-Latapi, D. Harvell, T. Simuni, K. Merchant, M. Brumm, R. Alcalay, H. Cho, C. Caspell-Garcia, C. Gochanour, C. Coffey, K. Marek (Chicago, USA)

Machine learning reveals candidate genes from Parkinson’s disease associated loci

E. Yu, R. Lariviere, R. Thomas, L. Liu, K. Senkevich, E. Fon, Z. Gan-Or (Montreal, Canada)

Mitochondrial DNA copy number is associated with the severity of motor symptoms and dementia in Parkinson’s disease

S. Jo, JH. Oh, S. Lee, J. Lee, CO. Sung, SJ. Chung (Seoul, Republic of Korea)

monogenic parkinson´s disease in a chilean cohort

P. Saffie-Awad, D. Texeira, A. Schumacher-Schuh, T. Leal, M. Inca-Martinez, I. Mata, P. Chana-Cuevas (Santiago, Chile)

monogenic parkinsonism in latin america: systematic review and meta-analysis

P. Saffie-Awad, D. Texeira, P. Chana-Cuevas, A. Schumacher-Schuh (Santiago, Chile)

MR-morphological changes in PD patients with heterozygous GBA mutation

J. Reimer, K. Faust, GH. Schneider, AA. Kühn, P. Krause (Berlin, Germany)

Multimodal imaging analysis of autosomal recessive Parkinson’s disease.

B. Soydas-Turan, G. Yalcin-Cakmakli, E. Yetim, B. Volkan-Salanci, E. Lay-Ergun, K. Karli-Oguz, B. Elibol (Ankara, Turkey)

Novel RAB39B stop mutation in patient with typical Early-Onset Parkinson’s disease

J. Jacobson, C. Piat, O. Ross, R. Savica (Rochester, USA)

Pain in Monogenic Parkinson’s disease: A systematic review

P. Alizadeh, C. Terroba Chambi, V. Bruno (Calgary, Canada)

Parkinson’s disease and Charcot-Marie-Tooth type 2: coincidental or causal?

G. Prado-Miranda, S. Bansal, S. Sharma, M. Jog (London, Canada)

Parkinson’s Disease and Chronic Inflammatory Demyelinating Polyneuropathy: Broadening the Clinical Spectrum of VCP Mutations?

E. Contaldi, L. Magistrelli, R. Cantello, S. Gallo, F. Vignaroli (Novara, Italy)

Parkinson’s disease in patients with Gaucher’s disease – causation or association?

B. Pandey (Tirupati, India)

Plasma glucosylsphingosine in GBA1 E326K, N370S and L444P mutation carriers with and without Parkinson’s disease

A. Haimovich, J. Agin-Liebes, N. Hatcher, L. Yao, C. Waters, R. Alcalay (New York, USA)

Population-Scale Long-Read Sequencing to Catalog Structural Variants in Parkinson’s Disease

K. Billingsley (bethesda, USA)

Potential genetic link between type I diabetes and Parkinson’s disease.

K. Senkevich, P. Alipour, E. Chernyavskaya, E. Yu, A. Noyce, Z. Gan-Or (Montreal, Canada)

Role of ATP10B variants in Parkinson Disease in a southern Spanish cohort

R. Díaz-Belloso, MT. Periñan, M. Martín-Bornez, S. García-Díaz, M. Bonilla-Toribio, D. Buiza-Rueda, R. Pineda-Sánchez, L. Muñoz-Delgado, S. Jesús, D. Macías-García, A. Adarmes-Gómez, F. Carrillo, P. Mir, P. Gómez-Garre (Sevilla, Spain)

SLC1A7 mutation is a cause of the autosomal dominant form of Parkinson’s disease

A. Kishore, M. Marc Sturm, F. Raimondi, P. Lichtner, A. Sreelatha, N. Casadei, C. Blauwendraat, G. Sarma, R. Kruger, A. Zimprich, A. Singleton, T. Gasser, O. Riess, M. Sharma (Kochi, India)

Testing gene-environment interaction in Parkinson’s disease (PD) using whole-genome sequencing of pesticide-exposed cohorts.

S. Goldman, J. Kaye, M. Traglia, R. Swanson, L. Lima, S. Finkbeiner, C. Tanner (San Francisco, USA)

The development of a multiplex allele specific PCR to improve the diagnostic yield of NGS in the GBA gene screening

C. Panteghini, C. Reale, I. Colangelo, M. Suerz, R. Cilia, R. Eleopra, B. Garavaglia, F. Invernizzi (Milano, Italy)

The epigenetic association of Parkinson’s disease risk gene- GPNMB rs199347 with drinking

YC. Chen, SL. Wu, YP. Liaw (Changhua, Taiwan)

The natural history of Parkinson’s disease in LRRK2 G2019S carriers

M. Kmiecik, D. Coker, K. Heilbron, S. Aslibekyan, J. Shelton, P. Cannon, L. Norcliffe-Kaufmann (Sunnyvale, USA)

The prevalence and clinical features of GBA-related Parkinson’s disease in a Slovak patient cohort

A. Lackova, J. Necpal, V. Han, P. Pavelekova, K. Kulcsarova, T. Svorenova, L. Baranova, E. Tusay, B. Kovacova, E. Petro, B. Stasko, K. Burasova, M. Ostrozovicova, S. Bohacova, Z. Gdovinova, M. Skorvanek (Kosice, Slovakia)

The role of genetic factors in the occurrence of levodopa-induced motor complications in Parkinson’s disease

B. Radojević, N. Dragašević-Mišković, A. Milovanović, I. Petrović, M. Svetel, I. Jančić, D. Stanisavljević, O. Milićević, M. Savić, V. Kostić (Belgrade, Serbia)

The role of RNA-carrying exosomes in synaptic physiology and in synucleinopathies

A. Chopra, T. Outeiro (Göttingen, Germany)

The spectrum of GBA mutations in the Korean population with Parkinson’s disease

J. Hwangbo, J. Lee, SC. Cheon, KS. Park (Yangsan, Republic of Korea)

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

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

Transcriptome-microRNA correlation and the regulation of targeted gene expression in de novo Parkinson’s disease patients.

KE. Choi, SY. Kim, J. Jang, I. Hwang, KW. Lee, JS. Kim (Seoul, Republic of Korea)

Uncovering the mechanisms of genotype by environment interaction in an idiopathic Parkinson’s disease model in Drosophila

P. Olguin, G. Olivares, N. Candia, F. Núñez-Villegas, A. Klein (Santiago, Chile)

Using Long read sequencing to identify complex structural variants in PRKN-PD

K. Daida, M. Funayama, A. Miano-Burkhardt, L. Mailik, K. Billingsley, M. Ishiguro, H. Yoshino, K. Ogaki, G. Oyama, R. Nonaka, W. Akamatsu, C. Blauwendraat, N. Hattori (Bethesda, USA)

Very high frequency of early-onset Parkinson’s disease with homozygous PRKN exon 3 deletion amongst indigenous populations in Sabah, Malaysia

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

Whole exome sequencing of 67 Swedish Parkinson patients identifies a family with VPS35 D620N

E. Kafantari, A. Puschmann (Lund, Sweden)