2018 International Congress » Parkinson's Disease: Genetics

Date: Monday, October 8, 2018

Time: 1:15pm-2:45pm

Location: Hall 3FG

Meeting: 2018 International Congress

1:15pm-2:45pm: A founder French-Canadian GBA mutation, p.W378G, as a cause for synucleinopathies and Gaucher disease

Z. Gan-Or, J. Ruskey, S. Zhou, L. Roncière, A. Alam, D. Spiegelman, J. Trempe, R. Postuma, N. Dupre, D. Amato (Montreal, QC, Canada)

1:15pm-2:45pm: A pilot study of plasma ubiquitin carboxyl-terminal hydrolase L1 (UCH-L1) as a potential blood-based biomarker in Parkinson’s disease

A. Ng, YJ. Tan, ZH. Lu, S. Ng, E. Ng, F. Setiawan, N. Keong, WL. Au, EK. Tan, L. Tan (Singapore, Singapore)

1:15pm-2:45pm: A review of modifiers of Parkinsonism in the Leucine-rich repeat kinase 2 (LRRK2) population

J. Staisch (Portland, OR, USA)

1:15pm-2:45pm: A Theranostic Approach to Intervene the Link Between Parkinson’s Disease (PD) and LRRK – 2 Mutation

P. Basavaraju, P. Moorthi (Coimbatore, India)

1:15pm-2:45pm: A unique case of DAT positive Parkinson’s disease along with a mutable Huntington’s gene

P. Prakash, S. Baser, M. Flaherty, T. Leichliter (Pittsburgh, PA, USA)

1:15pm-2:45pm: Acid sphingomyelinase deficiency rescues mitochondrial dysfunction in gba-/- zebrafish (Danio rerio)

M. Keatinge, L. Trollope, H. Mortiboys, O. Bandmann (Sheffield, United Kingdom)

1:15pm-2:45pm: Adult neurogenesis is impaired in pink1-/- zebrafish (Danio rerio)

S. Bandmann, M. Keatinge, M. Placzek, O. Bandmann (Sheffield, United Kingdom)

1:15pm-2:45pm: Analysis of gene polymorphisms of Parkinson’s disease in Han Chinese population

H. Jin, J. Zhang, K. Li, C. G, C. Liu (Suzhou, China)

1:15pm-2:45pm: Application of the Movement Disorder Society Prodromal Criteria in healthy G2019S-LRRK2 carriers

A. Mirelman, R. Saunders-Pullman, R. Alcalay, S. Shustak, A. Thaler, B. Cohen, A. Hillel, T. Gurevich, D. Raymond, H. Mejia-Santana, L. Ozelius, L. Clark, M. Gana-Weisz, A. Bar-Shira, A. Orr-Urtreger, S. Bressman, K. Marder, N. Giladi (Tel Aviv, Israel)

1:15pm-2:45pm: Association analysis of miRNA-linked variants with Parkinson’s disease and multiple system atrophy in a large Chinese population

X.J. Gu, Y.P. Chen, B. Cao, R.W. Ou, Q.Q. Wei, B. Zhao, Y. Wu, W. Song, H.F. Shang (Chengdu, People’s Republic of China)

1:15pm-2:45pm: Association of GALC, ZNF184 and rs2280104 with PD in southern Chinese

G. Li, J. Liu, S.S. Cui, J.J. Du, P.C. Zhang, J.F. Ma, S.D. Chen (Shanghai, China)

1:15pm-2:45pm: Association of GBA polymorphisms and mutations with dementia in Parkinson disease: A 7-year study of three population-based incident cohorts

K. Lunde, J. Chung, I. Dalen, K. Pedersen, J. Linder, M. Domellöf, E. Elgh, A. Macleod, C. Tzoulis, J. Larsen, O. Tysnes, L. Forsgren, C. Counsell, G. Alves, J. Maple-Grødem (Stavanger, Norway)

1:15pm-2:45pm: Balance and gait analysis of GBA mutation carriers with Parkinson’s disease (PD)

A. Gera, J. Okeefe, N. Purcell, C. Huml, S. Ruehl, B. Ouyang, G. Pal (Chicago, IL, USA)

1:15pm-2:45pm: BDNF(V66M), EIF4G1(R1205H), VPS35(D620N) gene polymorphisms in South Indian PD Patients

T. Syed, T. S.D, S. Meka, S. Kumar, S. Thandra, V. Kutala, R. Kandadai, R. Borgihain (Hyderabad, India)

1:15pm-2:45pm: Clinical evaluation of genetic changes of polymerase chain reaction in patients with PD at early stage

M. Salokhiddinov (Tashkent, Uzbekistan)

1:15pm-2:45pm: Clinical phenotype analysis of Parkinson’s disease associated with LRRK2 variants in Chinese Han population

C. Gu, K. Li, J. Zhang, H. Jin, Y. Ge, C. Liu (Suzhou, China)

1:15pm-2:45pm: Comparison of thermal sensation and pain thresholds in LRRK2 carriers and non carriers with Parkinson’s disease

A. Khlebtovsky, Y. Roditi, R. Djaldetti (Petach Tikva, Israel)

1:15pm-2:45pm: Computational and Biochemical analysis of lipid raft proteins: A new perspective approach to understand the progression of late onset Parkinson’s disease

L. Thangamani, S. Piramanayagam (Coimbatore, India)

1:15pm-2:45pm: Daughter’s ataxia reveals father’s genetic Parkinsonism. The first reported case of Spinocerebellar ataxia -15 presenting with levodopa responsive hemi Parkinsonism

M. Ghaly, C. Wools, A. Evans, E. Storey (St Albans, Australia)

1:15pm-2:45pm: Determining the effect of the HNMT, STK39 and NMD3 polymorphisms on the incidence of Parkinson’s disease, amyotrophic lateral sclerosis and multiple system atrophy in Chinese populations

Y.P. Chen, B. Cao, R.W. Ou, Q.Q. Wei, X.P. Chen, B. Zhao, Y. Wu, W. Song, H.F. Shang (Chengdu, People’s Republic of China)

1:15pm-2:45pm: Diagnostic utility of a targeted resequencing technique of next generation sequencing in detecting copy number changes in PARK2

NY. Kim, SK. Hong, YE. Kim, HI. Ma, YJ. Kim (Anyang, Republic of Korea)

1:15pm-2:45pm: Downregulation of blood serum microRNA 29 family in patients with Parkinson’s disease

YL. Tang, J. Wang (Shanghai, China)

1:15pm-2:45pm: Early synaptic loss and synaptic instability in a mouse model of prodromal Parkinson’s disease

Y. Hatanaka, R. Takahashi (Kyoto, Japan)

1:15pm-2:45pm: Early-onset Parkinson’s disease in seven patients with heterozygosity for parkin mutation

C. Lima, A. Novo, M. Sousa, M. Almeida, A. Morgadinho, C. Januário (Coimbra, Portugal)

1:15pm-2:45pm: Early-onset parkinsonism and epilepsy: A Tunisian family carrying a novel SYNJ1 mutation

S. Ben Romdhan, R. Zouari, S. Sakka, N. Farhat, O. Hdiji, H. Haj Kacem, M. Dammak, C. Mhiri (Sfax, Tunisia)

1:15pm-2:45pm: eEF1A2 and Prdx1 as possible new targets for Parkinson’s disease therapeutics

W. Wirakiat, P. Dharmasaroja (Bangkok, Thailand)

1:15pm-2:45pm: Effect of deep brain stimulation on clinical outcome in Parkinson’s disease patients with different genetic status

M. Kestenbaum, R. Schvartz, Y. Balash, A. Hilel, A. Mirelman, N. Giladi, T. Gurevich (Tel Aviv, Israel)

1:15pm-2:45pm: Evaluation of the relationship between Leucine-rich repeat kinase 2 (LRRK2) S1647T variants and smoking with risk of Parkinson’s Disease in the Singapore population

ZH. Lu, S. Ng, X.X. Huang, E. Ng, M. Parimelalagan, F. Setiawan, L. Tan, W.L. Au, K.Y. Tay, ZY. Xu, K. Prakash, E.K. Tan (Singapore)

1:15pm-2:45pm: Evidence for dysregulation of inflammatory mechanisms involving the NF-κB complex in the living parkinsonian brain

S. Benoit, H. Xu, R. Alexandrova, G. Kaur, B. Thiruvahindrapuram, M. Hebb (London, ON, Canada)

1:15pm-2:45pm: Expanding the canvas of PARKIN mutations and clinical phenotypes in familial and early onset Parkinson’s disease patients

S. Pandey, L. Tomar, S. Kumar, B. Thelma (New Delhi, India)

1:15pm-2:45pm: FDG-PET and metabolomics in PD-associated GBA variants

A. Greuel, JP. Trezzi, E. Glaab, C. Jäger, Z. Hodak, K. Lohmann, C. Klein, L. Timmermann, A. Drzezga, M. Tittgemeyer, Y. Ma, N. Diederich, C. Eggers (Marburg, Germany)

1:15pm-2:45pm: Frequency of the LRRK2 and GBA mutations in Russian population with Parkinson’s disease

K. Senkevich, A. Emelyanov, M. Nikolaev, T. Usenko, A. Bezrukova, I. Miliukhina, A. Kopytova, A. Timofeeva, A. Yakimovsky, S. Pchelina (Saint-Petersburg, Russian Federation)

1:15pm-2:45pm: Full sequencing and haplotype analysis reveals LRRK2 protective haplotype in REM sleep behavior disorder

B. Ouled Amar-Bencheikh, J. Ruskey, I. Arnulf, Y. Dauvilliers, C. Charley Monaca, V. Cochen De-Cock, JF. Gagnon, D. Spiegelman, M. Hu, B. Högl, A. Stefani, L. Ferini-Strambi, G. Plazzi, E. Antelmi, P. Young, A. Heidbreder, B. Mollenhauer, F. Sixel-Döring, C. Trenkwalder, W. Oertel, J. Montplaisir, R. Postuma, G. Rouleau, Z. Gan-Or (Montreal, QC, Canada)

1:15pm-2:45pm: Gaucher’s disease (GD) and Parkinsonism: An analysis from patients to relatives

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

1:15pm-2:45pm: Gender effects on clinical features in LRRK2 G2385R carriers and non-carriers in Parkinson’s disease

S. Cui, S. Chen (Shanghai, People’s Republic of China)

1:15pm-2:45pm: Genetic variations of SNCA and striatal dopaminergic dysfunction in patients with Parkinson’s disease

MJ. Lee, K. Pak (Busan, Korea)

1:15pm-2:45pm: Genome-wide association studies of motor and cognitive progression in Parkinson’s disease

M. Tan, L. Hubbard, M. Lawton, S. Kanavou, N. Wood, J. Hardy, Y. Ben-Shlomo, N. Williams, D. Grosset, H. Morris (London, United Kingdom)

1:15pm-2:45pm: Higher Levels of Serum Uric Acid Associated with Motor & Non-Motor Symptoms in Early Parkinson’s Disease

N. Chia, W.L. Au, Z. Lu, X. Huang, S. Ng, S. Acharyya, F. Setiawan, E. Ng, K.Y. Tay, E.K. Tan, L. Tan (Singapore, Singapore)

1:15pm-2:45pm: Identification and analysis of differential miRNA in exosomes of dopaminergic neurons overexpressing α-synuclein

Y. Liang, D. Lin, T. Zhou, D. Zheng (Guangzhou, China)

1:15pm-2:45pm: Identification of gut microbial genes in Parkinson’s disease by shotgun metagenomic analysis

Y. Qian, X. Yang, S. Xu, S. Chen, Q. Xiao (Shanghai, China)

1:15pm-2:45pm: Increased Parkin expression in a PARK20 (SYNJ1 mutation) iPSCs-based model

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

1:15pm-2:45pm: Integrated whole exome sequencing and chromosomal microarray in familial Parkinson’s disease

L. Robak, R. Du, B. Yuan, S. Gu, Z. Akdemir, J. Jankovic, J. Lupski, J. Shulman (Houston, TX, USA)

1:15pm-2:45pm: Interaction between MAPT H1 and APOE4 in early Parkinson’s Disease

C. Lambert, Z. Ahmed, P. Ostergaard, L. Ricciardi, F. Morgante, T. Barrick, M. Edwards (London, United Kingdom)

1:15pm-2:45pm: Interest in Genetic Testing in PD Patients with DBS

A. Fraint, G. Pal, L. Verhagen, D. Hall, K. Marder (Chicago, IL, USA)

1:15pm-2:45pm: Investigating the influence of alpha-synuclein promoter (Rep1) polymorphism on cognition, disability and plasma alpha-synuclein levels in Parkinson’s disease

YJ. Tan, Y. Zhao, ZH. Lu, S. Ng, E. Ng, F. Setiawan, WL. Au, EK. Tan, L. Tan, A. Ng (Singapore, Singapore)

1:15pm-2:45pm: Knockdown of eEF1A2 reduced neuronal survival in a SH-SY5Y cellular model of Parkinson’s disease through the PI3K/Akt/mTOR pathway

K. Khwanraj, P. Dharmasaroja (Bangkok, Thailand)

1:15pm-2:45pm: Kufor-Rakeb syndrome and a rare ATP13A2 missense mutation in a Portuguese patient

H. Salhi, S. Montaut, D. Devos, J. Chelly, F. Galacteros, P. Brugières, P. Remy, G. Fenelon (Créteil, France)

1:15pm-2:45pm: Kufor-Rakeb Syndrome with prominent dystonia and new mutations in ATP13A2 gene in two siblings

T. Yamasaki, J. Thakkar, L. Noll, J. Slevin (Lexington, KY, USA)

1:15pm-2:45pm: Lack of TMEM230 mutations in patients with familial and sporadic Parkinson’s disease in a Taiwanese population

T. Fan, C. Lin, H. Lin, M. Chen, R. Wu (Taoyuan, Taiwan)

1:15pm-2:45pm: Levels of plasma alpha-synuclein as measured using Single Molecule Array technology is higher in Parkinson’s disease compared to controls and is not influenced by LRRK2 genotype

YJ. Tan, A. Ng, ZH. Lu, S. Ng, E. Ng, F. Setiawan, WL. Au, EK. Tan, L. Tan (Singapore, Singapore)

1:15pm-2:45pm: Loss of VPS29 disrupts retromer function and synaptic transmission, leading to neurodegeneration in Drosophila

H. Ye, D. Li-Kroeger, Y. Li, H. Bellen, J. Shulman (Houston, TX, USA)

1:15pm-2:45pm: LRRK2 and GBA genetic mutations are not uncommon in an unselected Ashkenazi elderly cohort with PD

S. Isaacson, J. Isaacson (Boca Raton, FL, USA)

1:15pm-2:45pm: LRRK2 p.Leu119Pro and p.Leu488Pro in a family with neuropathologycally confirmed Parkinson´s disease without Lewy bodies

L. Vela-DeSojo, J. Hoenicka, P. Pire-Garcia, C. Guerrero, M. Osuna-Lopez, S. Ocaña-Lopez (Alcorcón, (Madrid), Spain)

1:15pm-2:45pm: Lysosphingolipids accumulation in macrophage model of Gaucher disease

M. Nikolaev, A. Kopytova, K. Senkevich, A. Emelyanov, G. Baydakova, E. Zakharova, G. Salogub, S. Pchelina (Gatchina, Russian Federation)

1:15pm-2:45pm: MANF improves the MPP+/MPTP-induced Parkinson’s disease via improvement of mitochondrial function and inhibition of oxidative stress

Y. Liu, J. zhang, Q. Cai, H. Sun, L. Jin (Shanghai, China)

1:15pm-2:45pm: Microarray analysis upon an synthetic α-synuclein induced model reveals some susceptibility genes in Parkinson’s disease

E. Tao (Guangzhou, China)

1:15pm-2:45pm: MicroRNA expression misregulation in iPSC-derived dopaminergic neurons from sporadic and LRRK2-associated Parkinson disease patients

R. Fernández-Santiago, T. Botta-Orfila, X. Morató, C. Calatayud, R. Raquel, MJ. Martí, C. Gaig, A. Raya, A. Consiglio, E. Tolosa, M. Ezquerra (Barcelona, Spain)

1:15pm-2:45pm: MicroRNAs as Biomarkers for Parkinson’s Disease

S. Bissonnette, C. Thomas, A. Labadorf, R. James, M. Saint-Hilaire, R. Myers (Boston, MA, USA)

1:15pm-2:45pm: Mitochondrial phenotype related to the A30P alpha-synuclein mutation as a patient-derived cellular model of Parkinson’s disease

B. Santos, P. Barbuti, P. Antony, J. Arias, A. Hummel, J. Schwamborn, R. Krüger (Belval, Luxembourg)

1:15pm-2:45pm: Molecular mechanisms of GCH1-associated Parkinson’s disease

J. Terbeek, W. Vandenberghe (Leuven, Belgium)

1:15pm-2:45pm: Molecular-genetic nature of Parkinson’s disease in the East European cohort

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

1:15pm-2:45pm: Neuronal KIF5b deletion induces striatum-dependent locomotor impairments and defects in membrane presentation of dopamine D2 receptors

T. Falzone, L. Cromberg, M. Alloatti, I. Fernandez Bessone, T. Saez (Buenos Aires, Argentina)

1:15pm-2:45pm: Novel GBA risk factor gene mutation p.W378R in a kindred with Gaucher’s disease and Parkinson’s disease

M. Lubomski, M. Hayes, M. Kennerson, M. Ellis, S. Chu, J. Blackie, J. O’Sullivan, G. Nicholson (Sydney, Australia)

1:15pm-2:45pm: Novel population-specific mutationsin PINK1 and Parkin genes from India

A. Kishore, M. Sturm, A. Asok, C. Schulte, D. KP, S. Krishnan, O. Riess, M. Sharma (Trivandrum, India)

1:15pm-2:45pm: Nucleotide repeats as genetic risk factors in a Swedish Parkinson’s disease cohort

J. Laffita Mesa, L. Brodin, P. Svenningsson (Stockholm, Sweden)

1:15pm-2:45pm: Nurr1 gene: A new research target for Parkinson’s disease

W. Le (Dalian, China)

1:15pm-2:45pm: Parkinson-related CHCHD2 is necessary for oligomerization of ALS/FTD-related CHCHD10

D. Narendra, X. Huang, B. Wu, Y. Liu, D. Nguyen, M. Marani (Bethesda, MD, USA)

1:15pm-2:45pm: PD associated with GBA and LRRK2 mutations: Genotype-phenotype correlation

V. Livneh, G. Yahalom, L. Greenbaum, S. Israeli-Korn, T. Fay-Karmon, S. Hassin, Z. Gan Or (Ramat Gan, Israel)

1:15pm-2:45pm: PLA2G6-related juvenile-onset Parkinsonism: clinical features and cognitive profile in a cohort of Chinese patients

C. Chen, Y.M. Sun, F.T. Liu, S.S. Luo, Z.T. Ding, J.J. Wu, J. Wang (Shanghai, China)

1:15pm-2:45pm: Polymorphisms of glutamatergic system genes are associated with levodopa-induced dyskinesia in Parkinson’s disease

I. Mironova, A. Latypova, I. Zhukova, O. Izhboldina, E. Kolupaeva, N. Zhukova, S. Ivanova (Tomsk, Russian Federation)

1:15pm-2:45pm: PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability

IJcken, M. van Slegtenhorst, V. Bonifati (Rotterdam, Netherlands)

1:15pm-2:45pm: Relationship between cyclooxygenase-2 gene polymorphisms and Parkinson’s disease susceptibility in Chinese Han population

M. Ye, Y. Yao, H. Gao (Nanjing, China)

1:15pm-2:45pm: Resistance to Parkinson’s disease among LRRK2 mutation carriers is associated with higher plasma levels of urate but not its purine precursors

M. Schwarzschild, R. Bakshi, R. Logan, M. Zorlu, X. Chen, A. Ascherio, E. Macklin (Boston, MA, USA)

1:15pm-2:45pm: Resting state networks abnormalities among healthy LRRK2 mutation carriers

A. Thaler, Y. Jacob, T. Gurevich, R. Helmich, B. Bloem, A. Orr-Urtreger, N. Giladi, L. Yahimovich, A. Mirelman, T. Hendler (Tel-Aviv, Israel)

1:15pm-2:45pm: SIRT1/AMPK pathway is involved in neuroprotective effects of resveratrol on MPTP-induced neuron loss

Y.J. Guo, S.Y. Dong, W.J. Zhao, Y.C. Wu (Shanghai, China)

1:15pm-2:45pm: Survival of patients with Parkinson’s disease is influenced by the mutations in the LRRK2 but not GBA gene

A. Thaler, T. Kozlovski, T. Gurevich, A. Bar Shira, M. Gana-Weisz, A. Orr-Urtreger, L. Goldstein, N. Giladi, A. Mirelman (Tel-Aviv, Israel)

1:15pm-2:45pm: Tef polymorphism predicts the decline of sleep disturbances in Parkinson’s disease

P. Hua, W. Liu (Nanjing, China)

1:15pm-2:45pm: The Parkinson’s Families Project: A family-based study of early onset and familial Parkinson’s disease

M. Tan, A. Costantini, S. Lubbe, E. Brown, J. Bras, N. Wood, A. Schapira, J. Hardy, H. Morris (London, United Kingdom)

1:15pm-2:45pm: The Polymorphism of SREBF1 Gene rs11868035 G/A Is Associated with susceptibility to Parkinson’s disease in a Chinese Population

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

1:15pm-2:45pm: Therapeutic Drug Monitoring and Pharmacogenetic Tests as Tools in Pharmacovigilance of Anti Parkinson’s Therapy

N. Verma (Baddi, India)

1:15pm-2:45pm: Ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) -mediated ubiquitination attributed to localization of Mortalin to mitochondria

L. Wu, W. Yang, Y. Tan, J. Ding, S. Chen (Shanghai, China)

1:15pm-2:45pm: Variants in MCCC1/LAMP3 and DGKQ Identified Through GWAS are Not Associated with PD in a Malaysian Malay Cohort

JL. Lim, AH. Tan, SY. Lim, AA. Azlina (Kuala Lumpur, Malaysia)

1:15pm-2:45pm: α-Synuclein induced dopaminergic neurons mitochondrial dysfunction via cytochrome c oxidase subunit 2

D. Lin (Guangzhou, China)

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