21st International Congress » Parkinson's Disease: Genetics

Date: Wednesday, June 7, 2017

Time: 1:15pm-2:45pm

Location: Exhibit Hall C

Meeting: 21st International Congress

1:15pm-2:45pm: A member of the HSP40/DNAJ family is a novel gene for early-onset parkinsonism

L. Straniero, I. Guella, V. Rimoldi, L. Parkkinen, A. Young, R. Asselta, J. Follett, G. Soldà, E. Saba, V. Sossi, J. Stoessl, K. Nishioka, N. Hattori, A. Rajput, R. Cilia, S. Goldwurm, M. Farrer, G. Pezzoli, A. Rajput, S. Duga (Rozzano-Milano, Italy)

1:15pm-2:45pm: A neuronal model of PARK20 (SYNJ1 mutation) using patient derived iPSCs

R. Masius, M. Minneboo, M. Grochowska, M. Quadri, M. Picillo, P. Barone, V. Bonifati, W. Mandemakers (Rotterdam, Netherlands)

1:15pm-2:45pm: Alteration of early endosomal trafficking causes neurodegeneration in PARK20

C. Criscuolo, D. Fasano, V. Coppola, G. Amodio, M. Picillo, A. De Rosa, V. Bonifati, P. Barone, M. Pellecchia, G. De Michele, P. Remondelli, S. Paladino (Naples, Italy)

1:15pm-2:45pm: Alterations in lipid metabolism modify GBA1-mediated neurodegeneration in a Drosophila model of Parkinson’s disease

M. Davis, R. Thomas, A. Germanos, S. Yu, B. Whitley, L. Pallanck (Seattle, WA, USA)

1:15pm-2:45pm: Are there genotype-phenotype correlations in Perrys syndrome?

J. Panicker, M. Bonello, R. Ellis, A. Randall, L. Fratalia, S. Alusi (Liverpool, United Kingdom)

1:15pm-2:45pm: Assessing the response to L-dopa/carbidopa intestinal gel infusion (Deudopa) based on genetic status.

A. Thaler, A. Hillel, H. Shabtai, N. Giladi, T. Gurevich (Tel-Aviv, Israel)

1:15pm-2:45pm: Association analyses of three susceptibility loci for Alzheimer’s disease in Parkinson’s disease, amyotrophic lateral sclerosis, and multiple system atrophy

Y. Chen, R. Ou, X. Chen, B. Cao, Q. Wei, B. Zhao, Y. Wu, H. Shang (Chengdu, China)

1:15pm-2:45pm: Association of Single Nucleotide Polymorphism in MAOB and Risk of Levodopa-Induced Dyskinesias in Parkinson’s Disease

B. Santos-Lobato, M. Capelari, N. Novaretti, Â. Vieira, V. Borges, H. Ferraz, I. Mata, C. Zabetian, V. Tumas (Ribeirão Preto, Brazil)

1:15pm-2:45pm: Association of the GBA T369M polymorphism with motor and cognitive symptoms in Parkinson’s disease

A. Julius, Y.-H. Lin, M. Smith, J. Leverenz, D. Weintraub, J. Trojanoswski, V. Van Deerlin, B. Ritz, R. Rausch, J. Quinn, K. Chung, S. Factor, L. Rosenthal, T. Dawson, M. Albert, A. Espay, F. Revilla, J. Devoto, J. Goldman, G. Stebbins, B. Bernard, Z. Zbigniew, O. Ross, D. Dickson, D. Yearout, S.-C. Hu, C. Johnson, B. Cholerton, T. Montine, K. Edwards, C. Zabetian (Seattle, WA, USA)

1:15pm-2:45pm: Caffeinated Drinks, LRRK2 Genotype and PD

C. Tanner, C. Marras, C. Meng, K. Marder, S. Bressman, R. Saunders-Pullman, R. Alcalay, E. Tolosa, A. Brice, S. Goldman, B. Schuele, A. Lang, S. Goldwurm, G. Riboldazzi, J. Ferreira, C. Klein, D. Berg, K. Brockmann, M. Tazir, J. Aasly, J. Marti-Masso, J. . Marti-Masso, R. Munhoz, C. Rieder, M. San Luciano, G. Mellick, C. Sue, K. Hasegawa, E. Tan, J. Langston, M. LRRK2 Cohort-Consortium (San Francisco, CA, USA)

1:15pm-2:45pm: Characterization of Noncoding Variant(s) Driving Genome-Wide Association of the PARK10 Locus in Autopsy-Proven Parkinson Disease and Controls.

J. Vance, K. Nuytemans, D. Gveric, L. Gomez, G. Beecham, E. Martin, W. Scott (Miami, FL, USA)

1:15pm-2:45pm: CLOCK rs1801260 polymorphism is associated with suscepibilty of Parkinson’s disease in Chinese population

F. Lou, X. Luo, M. Li, Y. Ren (Shenyang, China)

1:15pm-2:45pm: CLOCK varriant correlates to motor fluctuation and sleep disorders in Chinese patients with Parkinson’s disease

F. Lou, X. Luo, M. Li, Y. Ren (Shenyang, China)

1:15pm-2:45pm: Cognitive impairment in early onset and familial Parkinson’s disease.

M. Tan, J. Bras, J. Hong, C. Brugaletta, T. Samakomva, K. Hoffmann, S. Lubbe, D. Grosset, N. Wood, A. Schapira, J. Hardy, H. Houlden, H. Morris (London, United Kingdom)

1:15pm-2:45pm: Comparison of the non-motor symptom assessment scale between LRRK2 G2019S positive versus matched control Parkinson disease

S. Gunzler, S. Mittal, C. Tatsuoka, A. Wilson-Delfosse, S. Chen, J. Mieyal, I.J. Feng, D. Riley (Cleveland, OH, USA)

1:15pm-2:45pm: Data driven analysis for exploring phenotypic differences in patients with Parkinson’s disease with or without genetic mutations.

A. Mirelman, T. Kozlovski, A. Thaler, A. Mitelpunkt, T. Gurevich, M. Kestenbaum, Z. Gan Or, M. Gana-Weisz, A. Bar-Shira, A. Orr-Urtreger, S. Bressman, K. Marder, M. Marcus-Kalish, Y. Benjamini, N. Giladi (Tel Aviv, Israel)

1:15pm-2:45pm: Early-Onset Parkinson Disease with Hypocalcemia: Adult Presentation of 22q11.2 Deletion Syndrome

F. Moreira, J. Lopes, M. Sousa, L. Pires, C. Januário (Coimbra, Portugal)

1:15pm-2:45pm: Early-Onset Parkinsonism and Short Stature in a Puerto Rican Kindred. Possible DJ1 deletion?

K. Celis, J. Vance, A. Vinuela (Miami, FL, USA)

1:15pm-2:45pm: eEF1A2 promotes cell survival and protects against MPP+-induced apoptotic neuronal death through the PI3K/Akt/mTOR pathway

K. Khwanraj, P. Dharmasaroja, B. Morris (Ratchathewi, Thailand)

1:15pm-2:45pm: Exome sequencing in patients with impulse control disorders in Parkinson’s disease: a pilot study

S. Prud'hon, F. Danjou, S. Bekadar, Y. Marie, A. Rastetter, J. Guégan, F. Cormier-Dequaire, S. Lesage, A. Brice, J.-c. Corvol (Paris, France)

1:15pm-2:45pm: Expression of OX40 and OX40 serum level in patients with Parkinson’s disease

F. Alsahebfosoul, A. SeyedJoodaki, N. Eskandari, V. Shaygannejad, M. Salehi, M. Kazemi, M.T. Kardi, O. Mirmossayeb (Isfahan, Islamic Republic of Iran)

1:15pm-2:45pm: First Reported Case of Parkinsonism in a Patient with Argininosuccinate Lyase Deficiency

K. Woodward, D. Bhatti, E. Rush (Omaha, NE, USA)

1:15pm-2:45pm: Full sequencing and GWAS markers analysis of SNCA in RBD and progression to synucleinopathies.

Z. Gan-Or, J. Ruskey, I. Arnulf, Y. Dauvilliers, B. Hogl, A. Stefani, C. Charley Monaca, P. Dion, A. Desautels, J.-F. Gagnon, N. Dupre, R. Postuma, J. Montplaisir, G. Rouleau (Montreal, QC, Canada)

1:15pm-2:45pm: Gene associated differences in pre-diagnostic symptoms of Parkinson’s Disease: a retrospective study

S. Liu, Z. Zheng, Z. Gu, C. Wang, J. An, H. Ding, M. Zhou, H. Zhang, X. Dan, Y. Li, M. Cao, S. Cen, T. Mi, P. Chan (Beijing, China)

1:15pm-2:45pm: Genetic analysis of RAB39B mutations in early-onset and familial Parkinson’s Disease in a Taiwanese population.

C.-H. Lin, H.-H. Lin, R.-M. Wu, H.-I. Lin (Taipei, Taiwan)

1:15pm-2:45pm: Genetic and pharmacological rescue of DJ-1 loss-of-function caused by a c.192G>C mutation in PARK7

I. Boussaad, C. Obermaier, Z. Hanss, N. Weisschuh, B. Schmid, S. Hoffmann, L. Burbulla, C. Klein, S. Duga, D. Krainc, T.G. Gasser, B. Wissinger, R. Krüger (Esch-sur-Alzette, Luxembourg)

1:15pm-2:45pm: Genetic variants influencing dyskinesia; potential consequences for treatment in Parkinson’s disease

C. Kusters, K. Paul, I. Guella, J. Bronstein, J. Sinsheimer, M. Farrer, B. Ritz (Los Angeles, CA, USA)

1:15pm-2:45pm: Genetic, epigenetic and expression profiles in alpha-synucleinopathies

E. Scott, I. Guella, A. Rajput, A. Rajput, L. Parkkinen, M. Kobor, M. Farrer (Vancouver, BC, Canada)

1:15pm-2:45pm: Genome-wide DNA methylation analysis reveals epigenetic perturbations in Parkinson disease.

J. Young, S. Sivasankaran, L. Wang, A. Ali, A. Mehta, D. Davis, K. Belle, D. Dykxhoorn, C. Petito, G. Beecham, E. Martin, D. Mash, W. Scott, J. Vance (Miami, FL, USA)

1:15pm-2:45pm: Genotype-phenotype correlations in Parkinson disease patients who carry mutations in the GBA gene.

A. Thaler, T. Gurevich, A. Ezra, M. Kestenbaum, N. Giladi, A. Mirelman (Tel Aviv, Israel)

1:15pm-2:45pm: Glucocerebrosidase mutations in neurodegenerative disorders other than Parkinson’s disease

G. Buongarzone, C. Fenoglio, J. Nicoli, E. Monfrini, I. Trezzi, A. Arighi, R. Del Bo, N. Bresolin, E. Scarpini, G. Comi, S. Corti, A. Di Fonzo (Milan, Italy)

1:15pm-2:45pm: Higher genetic load is associated with an earlier disease onset but not with more rapid disease progression in Parkinson’s disease

S. Lerche, I. Wurster, B. Roeben, E. Schaeffer, C. Schulte, S. Akbas, A.-K. Hauser, C. Deuschle, T. Gasser, D. Berg, K. Brockmann (Tuebingen, Germany)

1:15pm-2:45pm: How common are the genomic rearrangements among possibly autosomal recessive PD cases in Turkey?

G. Yalcin Cakmakli, A. Yuzbasioglu, G. Onal, B. Peynircioglu, M. Ozguc, S. Dokmeci (Emre), B. Elibol (Ankara, Turkey)

1:15pm-2:45pm: Interest in Genetic Testing in Parkinson’s disease patients with DBS

A. Fraint, G. Pal, C. Timms, E. Tam, R. Bhavsar, L. Verhagen, D. Hall, K. Marder (Chicago, IL, USA)

1:15pm-2:45pm: Interval from onset of Parkinson disease to onset of motor and non-motor complications in Leucine-rich repeat kinase 2 (LRRK2) G2019S positive versus matched PD controls

S. Gunzler, D. Riley, A. Wilson-Delfosse, S. Chen, J. Mieyal, C. Tatsuoka (Cleveland, OH, USA)

1:15pm-2:45pm: Kufor-Rakeb Syndrome due to a Novel ATP13A2 Mutation in two Chinese brothers

E. Noch, N. Hellmers, C. Henchcliffe, H. Sarva (New York, NY, USA)

1:15pm-2:45pm: Meta-analysis of the interaction between HLA-DRB1 and smoking with Parkinson’s disease

Y.-H. Chuang, P.-C. Lee, A. Elbaz, B. Ritz (LA, CA, USA)

1:15pm-2:45pm: Mitochondrial DNA variants function as potential genetic risk factors for Parkinson disease

X. Zhang, T. Li, Z.-F. Fan, B.-L. Hu, J.-H. Zhu (Wenzhou, China)

1:15pm-2:45pm: Motor and Nonmotor clinical phenotype in LRRK2 Parkinson’s disease patients: a Case-control study

L. Correia Guedes, R. Bouça, N. Gonçalves, T. Soares, D. Abreu, M. Fabbri, M. Coelho, M.M. Rosa, M. Quadri, T. Outeiro, C. Sampaio, V. Bonifati, J. Ferreira (Lisbon, Portugal)

1:15pm-2:45pm: Neuroimaging studies in familial forms of Parkinson’s disease: A systematic review

J. Fernandez Bonfante, G. Pagano, M. Politis (London, United Kingdom)

1:15pm-2:45pm: Neuromelanin Magnetic Resonance Imaging of the Substatia Nigra in LRRK2 -related Parkinson’s disease

L. Correia Guedes, S. Reimão, P. Paulino, R. Nunes, R. Bouça, D. Abreu, N. Gonçalves, T. Soares, M. Fabbri, C. Godinho, P. Lobo, D. Neutel, M. Quadri, M. Coelho, M.M. Rosa, J. Campos, T. Outeiro, C. Sampaio, V. Bonifati, J. Ferreira (Lisbon, Portugal)

1:15pm-2:45pm: Neuroprotection of indole-derivative compound NC001-8 in Parkinson disease cell model by regulatory of NRF2 pathway

P.-C. Wei (Tao-Yuan, Taiwan)

1:15pm-2:45pm: Parkin (PARK 2) Mutations in Patients with Early-Onset Parkinson’s Disease

A. Ivashynka, S. Likhachev (Minsk, Belarus)

1:15pm-2:45pm: Parkinson’s disease in untreated Gaucher patients is associated with reduced glucosylsphingosine (Lyso-Gb1) serum levels

D. Arkadir, T. Dinur, A. Rolfs, A. Zimran (Jerusalem, Israel)

1:15pm-2:45pm: Parkinson’s disease GWAS risk loci and symptom progression

K. Paul, J. Schulz, J. Bronstein, C. Lill, B. Ritz (los angeles, CA, USA)

1:15pm-2:45pm: Parkinsonian Features in a Cohort of Gaucher’s Disease (GD) Patients and Relatives.

I. Trezzi, E. Monfrini, G. Buongarzone, E. Cassinerio, I. Motta, F. Nascimbeni, F. Carubbi, N. Bresolin, G. Comi, M. Cappellini, A. Di Fonzo (Milan, Italy)

1:15pm-2:45pm: Patient-derived GBA1-PARK2 double-mutant cellular models to study the effect of GBA1 as a modifier of familial Parkinson’s disease

Z. Hanss, I. Boussaad, P. Barbuti, S. Goldwurm, R. Krüger (Belvaux, Luxembourg)

1:15pm-2:45pm: Physical and cognitive stimulation through environmental enrichment prevents early molecular pathology in a Parkinson´s disease model

Z. Wassouf, T. Hentrich, S. Samer, O. Riess, N. Casadei, J. Schulze-Hentrich (Tübingen, Germany)

1:15pm-2:45pm: Progression to Parkinson’s disease in carriers of LRRK2 G2019S mutation: a 4-year prospective study with serial dopamine transporter imaging

J. Infante, M. Sierra, I. Martínez-Rodríguez, P. Sánchjez-Juan, I. González-Aramburu, M. Jimenez-Alonso, A. Sánchez-Rodriguez, I. Banzo (Santander, Spain)

1:15pm-2:45pm: Pure ATXN10 repeat expansion causes Parkinson’s disease

F. Jimenez Gil, K. McFarland, K. Lee, Y.-C. Tsai, C. Byrne, R. Gopi, N. Huang, J. Langston, T. Clark, T. Ashizawa, B. Schuele (Guadalajara, Jalisco, Mexico)

1:15pm-2:45pm: Rare variant analysis of the PPMI dataset to uncover the complex genetic architecture of Parkinson’s disease

d. BOBBILI, P. MAY, R. KRUEGER (Esch-sur-Alzette, Luxembourg)

1:15pm-2:45pm: Screening of GBA and LRRK2 G2019S Mutations in Egyptian Parkinson’s Disease Patients

L. R'Bibo, S. Hamed, H. Houlden, N. Wood (London, United Kingdom)

1:15pm-2:45pm: SNCA multiplication consortium: Clinicogenetic analysis of SNCA multiplication probands and families.

A. Book, M. Farrer, T. Candido, I. Guella, D. Evans, E. Gustavsson (Vancouver, BC, Canada)

1:15pm-2:45pm: Specific Bdnf variants are associated with suboptimal response to levodopa but not to other dopaminergic medications or deep brain stimulation in Parkinson’s disease

C. Sortwell, P. Auinger, J. Goudreau, B. Pickut, B. Berryhill, M. Hacker, D. [email protected], J. Lipton, A. Cole-Strauss, J. Elm, D. Fischer (Grand Rapids, MI, USA)

1:15pm-2:45pm: Spiral Analysis is a Promising Biomarker in LRRK2 G2019S carriers

R. Ortega, M. Pullman, A. Glickman, I. Perera, M. San Luciano, A. Mirelman, C. Pont-Sunyer, N. Giladi, E. Tolosa, Q. Yu, S. Bressman, S. Pullman, R. Saunders-Pullman (New York, NY, USA)

1:15pm-2:45pm: The identification of molecular-genetic background of familial atypical parkinsonism in “Hornacko”, a specific region of the south-eastern Moravia, Czech Republic.

K. Mensikova, R. Vodicka, K. Kolarikova, T. Bartonikova, P. Kanovsky (Olomouc, Czech Republic)

1:15pm-2:45pm: The therapeutic effect of MANF in the MPTP/MPP+-induced model of Parkinson’s disease

y. liu (shanghai city, China)

1:15pm-2:45pm: TMEM230 mutation analysis in Parkinson’s disease in a Chinese population

Z. Liu (Changsha, China)

1:15pm-2:45pm: Understanding the role of LRRK2 in Indian population

A. Kishore, M. Sturm, A. Sreelatha, S. Robert, S. Krishnan, M. Banerjee, O. Riess, P. Bauer, R. Kruger, T. Gasser, M. Sharma (Trivandrum, India)

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