20th International Congress » Parkinson's disease: Genetics

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)