2018 International Congress » Parkinson's Disease: Genetics

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)