20th International Congress » Parkinson's disease: Genetics

Date: Tuesday, June 21, 2016

Time: 12:30pm-2:00pm

Location: Exhibit Hall located in Hall B, Level 2

Session Type: Poster Session

Meeting: 20th International Congress

12:30pm-2:00pm: A novel haplotype in LRRK2 is associated with risk for multiple system atrophy in the Korean population

L.L. Farrell, E. Scott, H.J. Kim, I. Guella, S. Bortnick, E.M. Nosova, B. Jeon, C.W. Sin, H. Park, S.S. Park, M.J. Farrer (Vancouver, Cameroon)

12:30pm-2:00pm: A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family

H.A. Hanagasi, A. Giri, G. Guven, B. Bilgic, A.K. Hauser, M. Emre, P. Heutink, N. Basak, T. Gasser, J. Simón-Sánchez, E. Lohmann (Istanbul, Turkey)

12:30pm-2:00pm: A web resource on levodopa-induced dyskinesia (LID) genetics

M. Falla, H. Blankenburg, P. Gruber, I. Pichler, C. Schwienbacher, A. Hicks, F. Domingues, P.P. Pramstaller (Bolzano/Bozen, Italy)

12:30pm-2:00pm: Alpha-synuclein levels and dimerization in erythrocytes of Parkinson’s disease patients

N. Papagiannakis, C. Koros, M. Stamelou, A.M. Simitsi, M. Maniati, R. Antonelou, D. Papadimitriou, G. Dermentzaki, M. Moraitou, H. Michelakakis, L. Stefanis (Chaidari, Greece)

12:30pm-2:00pm: Analysis of the genetic variability in Parkinson’s disease from southern Spain

S. Bandres-Ciga, N.E. Mencacci, R. Durán, F.J. Barrero Hernández, F. Escamilla-Sevilla, S. Morgan, J. Hehir, F. Vives, J. Hardy, A.M. Pittman (Granada, Spain)

12:30pm-2:00pm: Assessment of Parkinson’s disease risk loci as DNA methylation quantitative trait loci

D.G. Hernandez, C. Letson, J. Simon-Sanchez, T.R. Price, M.A. Nalls, A.B. Singleton (Bethesda, MD, USA)

12:30pm-2:00pm: Association analysis of SNP rs11868035 in SREBF1 with Parkinson’s disease, amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population

X. Yuan, Y. Chen, B. Cao, Q. Wei, R. Ou, H. Shang (Chengdu, People's Republic of China)

12:30pm-2:00pm: Association of four new candidate genetic variants with Parkinson’s disease in Han Chinese

L. Wang, L. Cheng, N.N. Li, W.J. Yu, X.Y. Sun, R. Peng (Chengdu, People's Republic of China)

12:30pm-2:00pm: C9ORF72 intermediate repeat copies as a rare genetic cause of atypical Parkinsonian syndromes or Parkinson’s disease complicated by psychosis in a Sardinian population

M. Meloni, A. Cannas, P. Solla, M.M. Mascia, G. Orofino, R. Farris, D. Ciaccio, E. Binaghi, M.R. Murru, F. Marrosu (Cagliari, Italy)

12:30pm-2:00pm: Clinical exome sequencing – diagnostic yield in a sample of German patients with Parkinson’s disease

B. Schormair, G. Machetanz, B. Mollenhauer, C. Trenkwalder, J. Winkelmann (Neuherberg, Germany)

12:30pm-2:00pm: Clinical phenotype of Parkinsonian patients with α-synuclein mutation: Our case report and review of the literature

P. Nigro, N. Tambasco, M. Romoli, S. Simoni, E. Sacchini, E. Brahimi, E. Marsili, F. Ripandelli, P. Prontera, P. Calabresi (Perugia, Italy)

12:30pm-2:00pm: Clinical presentations of 2 Parkin / lysosomal storage disorder heterozygotes with Parkinson’s disease

M. Barkhuizen, D.G. Anderson, A.F. Grobler, S.J. Lubbe, H.R. Morris (Potchefstroom, South Africa)

12:30pm-2:00pm: Coding and non-coding glucocerebrosidase variants have an impact on cognitive decline in Parkinson’s disease

C. Schulte, I. Liepelt-Scarfone, C.E. Hagen, A.K. Hauser, K. Brockmann, T. Gasser, J.B. Schulz, K. Reetz, S. Gräber, B. Mollenhauer, C. Trenkwalder, K. Witt, N. Schmidt, R. Dodel, M. Balzer-Geldsetzer, U. Wüllner, T. Klockgether, A. Spottke, A. Storch, H.U. Wittchen, O. Riedel, S. Baudrexel, E. Kalbe, D. Berg, M.M. Mielke (Tübingen, Germany)

12:30pm-2:00pm: Do environmental factors influence the age at onset of Parkinson’s disease in LRRK2 G2019S carriers?

S. Elincx-Benizri, L. Greenbaum, G. Yahalom, T. Tsafnat, S. Israeli-Korn, O.S. Cohen, H. Strauss, S. May, R. Djaldetti, N. Warman Alaluf, S. Hassin-Baer (Ramat Gan, Israel)

12:30pm-2:00pm: Do mutations in the TGM6 (SCA35) gene cause early-onset Parkinson’s disease?

A. Westenberger, M. Svetel, N. Dragaševic, I. Brænne, V. Dobricic, A.A. Hicks, A. Tomic, N. Kresojevic, H. Pawlack, K. Grütz, A. Domingo, J. Erdmann, V.S. Kostic, C. Klein (Luebeck, Germany)

12:30pm-2:00pm: Dopamine D3 receptor Ser9Gly variant is a risk factor for impulse control disorders in Parkinson’s disease

A. Kishore, S. Krishnamoorthy, R. Rajan, S. Sarma, M. Banerjee (Trivandrum, India)

12:30pm-2:00pm: E326K GBA polymorphism and Parkinson’s disease in Russian population

K.A. Senkevich, M.A. Nikolaev, A.E. Kopytova, T.S. Usenko, I.V. Miliukhina, A.A. Timofeeva, A.F. Yakimovskii, S.N. Pchelina (Saint Petersburg, Russia)

12:30pm-2:00pm: Elevated SNCA expression in CD45+ peripheral blood cells in patients with dementia with Lewy bodies

N. Nikolaev, B. Lu.A., P.A. Andoskin, A. Emelyanov, A.E. Kopytova, K.A. Senkevich, I.V. Milyukhina, S.N. Pchelina (Saint-Petersburg, Russia)

12:30pm-2:00pm: Elucidating mechanisms of endogenous disease protection resulting in reduced penetrance in PINK1 deficiency

M. Vos, C. Böhm, C. Klein (Lübeck, Germany)

12:30pm-2:00pm: Exome sequencing in the Czech patients with early-onset Parkinson’s disease

D. Kemlink, B. Schormair, O. Fiala, D. Zahorakova, P. Martasek, J. Roth, J. Winkelmann, E. Ruzicka (Praha 2, Czech Republic)

12:30pm-2:00pm: Familial Parkinson’s disease in Ireland

D.A. Olszewska, A. McCarthy, B. Magennis, O. Ross, T. Lynch (Dublin, Ireland)

12:30pm-2:00pm: Familial Parkinson’s disease in the Province of Quebec

L.L. Farrell, E. Pourcher, E. Nosova, M. McKenzie, I. Guella, D.M. Evans, C. Déry, M.J. Farrer (Vancouver, BC, Canada)

12:30pm-2:00pm: FBOX07 mutation with juvenile parkinsonism and behavioral disorders

M. Kuzu, F.N. Durmaz, Ç. Ulukan, H. Kaymakçalan, A.O. Çaglayan, C. Akbostanci (Ankara, Turkey)

12:30pm-2:00pm: Frequency of GBA1 and LRRK2 G2019S mutations, and body mass index in Ashkenazi Jews

N. Doan, D. Raymond, R.A. Ortega, J. Ratliff, I. Meijer, J. Squires, S. Buckingham, B. Johannes, A. Vaigast, I. Perera, W.C. Nichols, L. Ozelius, J. Miravite, L. Severt, V. Shanker, N. Lubarr, S. Bressman, R. Saunders-Pullman (New York, NY, USA)

12:30pm-2:00pm: Gene network driven probable drug target identification: An in-silico study on Parkinson’s disease

H.N. Singh, J. Pani, K.G. Singh, V. Swarup (Gautam Budh Nagar, India)

12:30pm-2:00pm: Genetic analysis of CHCHD2 gene in Parkinson’s disease in a Taiwanese population

T.S. Fan, H.I. Lin, C.H. Lin, R.M. Wu (Taipei, Taiwan)

12:30pm-2:00pm: Genetic Identification of early-onset parkinsonism among Norwegian patients

E.K. Gustavsson, J. Trinh, M. McKenzie, S. Bortnick, J.O. Aasly, M.J. Farrer (Vancouver, BC, Canada)

12:30pm-2:00pm: Genetic risk factors of dementia and psychosis in Parkinson’s disease

T. Oeda, A. Umemura, Y. Mori, S. Tomita, M. Kohsaka, K. Park, K. Inoue, H. Fujimura, H. Hasegawa, H. Sugiyama, H. Sawada (Kyoto, Japan)

12:30pm-2:00pm: Genetic variation near the SNCA gene associates with Parkinson’s disease motor phenotype and progression

C. Cooper, Y. Berlyand, D. Weintraub, S.X. Xie, A. Espay, J. Quinn, K. Edwards, T. Montine, C. Zabetian, A. Chen-Plotkin (Philadelphia, PA, USA)

12:30pm-2:00pm: Genome-wide bioinformatic analysis of Parkinson’s disease: A focus on neuronal health maintenance

R. Qadri, M.A. Faiq, V. Goyal, A.K. Mukhopadhyay (New Delhi, India)

12:30pm-2:00pm: Hereditary atypical parkinsonism with novel mutation of the VPS35 and FBXO7 genes

K. Mensikova, T. Bartonikova, L. Mikulicova, R. Vodicka, R. Vrtel, M. Godava, I. Dolinova, M. Vastik, M. Kaiserova, P. Otruba, P. Kanovsky (Olomouc, Czech Republic)

12:30pm-2:00pm: High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population

S. Ortega-Cubero, O. Lorenzo-Betancor, E. Lorenzo, B.A. Benitez, C. Cruchaga, L. Samaranch, M. Diez, J.A. Obeso, M.C. Rodriguez-Oroz, M. Aguilar, M.A. Pastor, P. Pastor (Palencia, Spain)

12:30pm-2:00pm: Impulse control disorder associates with tyrosine hydroxylase 2 gene variants in Parkinson’s disease patients subject to dopaminergic therapy

I. Legarda, B. Vives, C.A. Beltran-Gomila, B. Ortega-Vila, M. Ruiz, J. Pol-Fuster, C. Vives-Bauza (Palma, Spain)

12:30pm-2:00pm: In utero delivery of scAAV9 mediates widespread brain transduction in rats and monkeys: Towards new models of Parkinson’s disease

M. Bourdenx, L. Chansel-Debordeaux, S. Dovero, V. Grouyhier, N. Dutheil, S. Brun, A. Espagna, L. Groc, Q. Li, C. Jimenez, E. Bezard, B. Dehay (Bordeaux, France)

12:30pm-2:00pm: Inhibition of the mitochondrial calcium uniporter (MCU) rescues dopaminergic neurons in pink1-/- zebrafish

B. Oliver, S. Solman, M. Keatinge, M. DaCosta, H. Mortiboys, S. Sugunan, J. Kuznicki (Sheffield, United Kingdom)

12:30pm-2:00pm: Interest in genetic testing in Parkinson’s disease patients with deep brain stimulation

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

12:30pm-2:00pm: Investigating voice as a biomarker of LRRK2-associated Parkinson’s disease (PD)

S. Arora, N.P. Visanji, T.A. Mestre, T. Ghate, A.E. Lang, M. Little, C. Marras (Birmingham, United Kingdom)

12:30pm-2:00pm: Investigation into the genetic etiology in South African Parkinson’s disease patients

G. Borrageiro, L. Van den Heuvel, S.M.J. Hemmings, S. Seedat, S. Bardien (Cape Town, South Africa)

12:30pm-2:00pm: Investigation of mosaicism for copy number variants in PD brain

C. Proukakis, K. Mokretar, A. Ejaz, A. Soenmez, C. Grace, D. Pease, H. Houlden, J.W. Taanman, A.H. Schapira, E. Nacheva (London, United Kingdom)

12:30pm-2:00pm: Lack of association between LRRK2 G2385R and cognitive dysfunction in Korean patients with idiopathic Parkinson’s disease

J.H. Hong, Y.K. Kim, J.S. Park, J.E. Lee, M.S. Oh, E.J. Chung, J.Y. Kim, Y.H. Sung, C.H. Lyoo, J.H. Lee, D.Y. Kwon, H.S. Kim, H.W. Shin, S.A. Park, I.S. Park, J.S. Kim, P.H. Lee, S.B. Koh, J.S. Baik, S.J. Kim, H.I. Ma, J.W. Kim, Y.J. Kim (Anyang, Korea)

12:30pm-2:00pm: Longitudinal evaluation of motor and non motor symptoms among LRRK2 risk variants

E.W. Lim, X. Deng, H.H. Li, P. Kumar M, Y.L. Ng, Y.L. Lo, E.K. Tan (Singapore, Singapore)

12:30pm-2:00pm: LRRK2 G2019S mutation carrier with an unusual phenotype: Progressive logopenic aphasia

S. López, A. Pozueta, M. Sierra, R. Quirce, P. Sánchez-Juan, I. González-Aramburu, C. Sánchez-Quintana, J.M. Carril, J. Infante (Santander, Spain)

12:30pm-2:00pm: Mitochondrial cardiolipin couples electron transport between ubiquinone and complex I to rescue PINK1 deficiency

M. Vos, A. Geens, L. Deaulmerie, J. Swerts, K. Craessaerts, P. Seibler, A. Rakovic, B. De Strooper, R. Efremov, V.A. Morais, C. Klein, P. Verstreken (Lübeck, Germany)

12:30pm-2:00pm: Next-generation profiling to identify the molecular etiology of Parkinson’s disease dementia

E.D. Driver-Dunckley, J. Corneveaux, D.B. Matt, L. Cuyugan, W. Liang, M. Huentelman, T.G. Beach, C.H. Adler, A. Henderson-Smith, T. Dunckley (Scottsdale, AZ, USA)

12:30pm-2:00pm: No RAB39B gene mutations in Chinese familial Parkinson’s disease

J.F. Guo, J.F. Kang, X.X. Yan, B.S. Tang (Changsha, People's Republic of China)

12:30pm-2:00pm: Oligomeric alpha-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson’s disease

A.K. Emelyanov, G.V. Baydakova, P.A. Andoskin, M.A. Nikolaev, K.A. Senkevich, I.V. Milyukhina, A.F. Yakimovskii, A.A. Timofeeva, E.Y. Fedotova, E.P. Nuzhnyi, S.N. Illarioshkin, E.Y. Zakharova, S.N. Pchelina (Saint-Petersburg, Russia)

12:30pm-2:00pm: Parkinson’s disease characteristics in patients with Gaucher’s disease

A. Thaler, A. Mirelman, E. Shimoni, M. Victor, O. Assais, M. Grumberg, T. Gurevich, T. Shiner, M. Gana Weisz, A. Orr Urtreger, N. Giladi (Tel-Aviv, Israel)

12:30pm-2:00pm: Phenotypic characteristics in GBA-associated Parkinson’s disease (PD): A study in a Greek population

A.M. Simitsi, C. Koros, N. Papagiannakis, R. Antonelou, M. Moraitou, H. Michelakakis, M. Stamelou, L. Stefanis (Athens, Greece)

12:30pm-2:00pm: Premotor phase of PD in two GBA mutation carriers

N. Kresojevic, M. Jankovic, I. Petrovic, V. Dobricic, N. Dragasevic, M. Svetel, L. Brajkovic, V. Kostic (Belgrade, Serbia)

12:30pm-2:00pm: Protective effects of ATP13A2 in Parkinson’s disease models

S. Martin, S. van Veen, J. Zielich, T. Holemans, C. van den Haute, V. Beakelandt, P. Agostinis, P. Vangheluwe (Leuven, Belgium)

12:30pm-2:00pm: Reduced lifespan and climbing ability observed in the overexpressing human α-synuclein without heat shock protein CNB115 in Parkinson’s disease drosophila line

M.S. Islam, H.J. Kim, S.S. Hong (Jeonju, Korea)

12:30pm-2:00pm: Reduced thalamo-cortical functional connectivity in asymptomatic LRRK2 mutation carriers

D. Vilas, B. Segura, C. Pont-Sunyer, M.J. Martí, Y. Compta, F. Valldeoriola, H. Baggio, M. Quintana, A. Bayés, J. Hernández-Vara, M. Calopa, M. Aguilar, C. Junqué, E. Tolosa (Barcelona, Spain)

12:30pm-2:00pm: Relationship between Alzheimer’s disease GWAS-linked top hits and risk of Parkinson’s disease with or without cognitive decline: A Chinese population-based study

J.F. Guo, Y.Q. Wang, X.X. Yan, B.S. Tang (Changsha, People's Republic of China)

12:30pm-2:00pm: Response to thermal and pain stimulation and genetic variance for pain in patients with Parkinson’s disease – Are they all related?

A. Khlebtovsky, R. Dabby, Y. Rodity, I. Steiner, R. Djaldetti (Petach Tikva, Israel)

12:30pm-2:00pm: Risk prediction modeling in Parkinson’s disease using genetic and environmental/lifestyle factors

C.M. Lill, Y.H. Chuang, J. Hansen, P.C. Lee, N. Greene, C. Klein, H. Binder, B. Ritz, L. Bertram (Lübeck, Germany)

12:30pm-2:00pm: Roles of combined functional catechol-o-methyltransferase genotypes in Chinese Parkinson’s disease: A cross-sectional survey

Y. Qian, X. Yang, S. Xu, J. Liu, Q. Xiao (Shanghai, People's Republic of China)

12:30pm-2:00pm: Serum levels of polychlorinated biphenyls, CYP2B6 and neurodegenerative disease in the Faroe Islands

L.L. Farrell, E. Nosova, S. Bech, I. Guella, M.J. Farrer, M.S. Petersen (Vancouver, BC, Canada)

12:30pm-2:00pm: SMPD1 mutations, acid-sphingomyelinase activity and α-synuclein accumulation in Parkinson’s disease

Z. Gan-Or, V. Mallett, O. Tavassoly, Y. Dauvilliers, C. Leblond, A. Ambalavanan, S. Laurent, S. Strong, D. Spiegelman, A. Dionne-Laporte, C. Liong, O. Levy, S. Fahn, C. Waters, P. Mazzoni, S. Kuo, W. Chung, B. Ford, K. Marder, U. Kang, P. Wolf, P. Oliva, X. Zhang, L. Clark, P. Dion, E. Fon, N. Dupre, G. Rouleau, R. Alcalay (Montreal, Canada)

12:30pm-2:00pm: Study on association between physical and genetics role in essential tremor – A case control study

K. Kalimuthu, C. Ramachandran, M. Kadarkarai, V. Savariar (Coimbatore, India)

12:30pm-2:00pm: Systematic review of autosomal recessive parkinsonism using the MDGene database protocol

C. Hartmann, A. Mashychev, A. Westenberger, A. Domingo, J. Hampf, S. Schaake, H. Zehnle, C. Marras, L. Bertram, M. Kasten, K. Lohmann, C.M. Lill, C. Klein (Lübeck, Germany)

12:30pm-2:00pm: The Faroese Parkinson’s diseases research program-Multifactorial analyses of a complex syndrome

M.S. Petersen, S. Bech, E. Nosova, L.L. Farrell, I. Guella, D. Evans, B. Ritz, J. Aasly, M.J. Farrer (Tórshavn, Faroe Islands)

12:30pm-2:00pm: The role of non-steroidal anti-inflammatory use in symptomatic and asymptomatic LRRK2 G2019S mutation carriers

K.A. Wyman-Chick, M.J. Barrett, S.A. Sperling, C.A. Manning (Charlottesville, VA, USA)

12:30pm-2:00pm: Transcriptional profile of blood leukocyte in Parkinson’s disease patients after multi-modal exercise and tai chi training

L. Jin, Y. Hu, T. Zhang, K. Zhang, Z. Nie, F. Chen, Q. Cai, S. Li (Shanghai, People's Republic of China)

12:30pm-2:00pm: Transient parkinsonism during pregnancy in patient heterozygous for Gaucher’s disease: Case report

S. Patel, K. Appleby, H. Fernandez (Cleveland, OH, USA)

12:30pm-2:00pm: Two cases of parkinsonism with atypical genetics

J.A. Ribeiro, F. Moreira, J. Beato-Coelho, A.S. Morgadinho, M.R. Almeida, C. Januário (Coimbra, Portugal)

12:30pm-2:00pm: Vitamin D receptor polymorphisms and Parkinson’s disease in a Korean population: Revisited

W. Jang, J.S. Kim (Gangneung, Korea)

12:30pm-2:00pm: Young-onset Parkinson’s disease in two siblings with compound heterozygosity for two rare parkin mutations

H. Apaydin, A. Gündogdu-Eken, A. Gündüz, M. Tütüncü, B.Ç. Poyraz, A.N. Basak (Istanbul, Turkey)

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