2019 International Congress » Genetics

Date: Monday, September 23, 2019

Time: 1:45pm-3:15pm

Location: Les Muses Terrace, Level 3

Meeting: 2019 International Congress

1:45pm-3:15pm: A case report of Wilson Disease in a Kyrgyz teenager

A. Jusupova (Bishkek, Kyrgyzstan)

1:45pm-3:15pm: A coding VPS13C haplotype is associated with reduced risk for Parkinson disease

U. Rudakou, J. Ruskey, L. Krohn, S. Laurent, D. Spiegelman, L. Greenbaum, G. Yahalom, A. Desautels, J. Montplaisir, S. Fahn, C. Waters, L. Levy, C. Kehoe, S. Narayan, Y. Dauvilliers, N. Dupré, S. Hassin-Baer, R. Alcalay, G. Rouleau, E. Fon, Z. Gan-Or (Montreal, QC, Canada)

1:45pm-3:15pm: A family of Phospholipase A2-associated neurodegeneration presented as complicated hereditary spastic paraplegia

MC. Wu, MY. Lan, JW. Li, YF. Chen, YY. Chang (Kaohsiung, Taiwan)

1:45pm-3:15pm: A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel/Crohn’s disease

A. Shadrin, A. Sreelatha, S. Mucha, C. Blauwendraat, O. Frei, D. Ellinghaus, A. Franke, G. Wenning, A. Singleton, T. Gasser, H. Houlden, S. Scholz, O. Andreassen, M. Sharma (Oslo, Norway)

1:45pm-3:15pm: A novel intronic pentanucleotide TTTGA repeat insertion in SAMD12 causes familial cortical myoclonic tremor with epilepsy type 1

ZD. Cen, Y. Chen, S. Chen, XH. Chen, B. Wang, F. Xie, OY. Zhiyuan, ZW. Jiang, AS. Fu, B. Hu, HM. Yin, X. Qiu, F. Yu, XP. Du, WC. Has, YX. Liu, HT. Wang, DH. Yang, LB. Wang, CY. Liu, JF. Xiao, BR. Zhang, W. Luo (Hangzhou, China)

1:45pm-3:15pm: A novel intronic variant in MAPT causes FTLD-parkinsonism: Implications for regulatory mechanism of MAPT pre-mRNA splicing

P. Gonzalez-Latapi, B. Bustos, D. Larson, L. Kinsley, N. Siddique, T. Siddique, T. Simuni, E. Bigio, S. Lubbe, R. de Silva, D. Krainc, N. Mencacci (Chicago, IL, USA)

1:45pm-3:15pm: A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis

R. Kaiyrzhanov, R. Maroofian, M. Behnam, M. Salehi, V. Salpietro, H. Houlden (London, United Kingdom)

1:45pm-3:15pm: A novel TGM6 heterozygous mutation in a patient with cerebellar ataxia

A. Manini, T. Bocci, E. Monfrini, D. Ronchi, M. Vizziello, G. Franco, A. de Rosa, F. Sartucci, A. Di Fonzo (Milan, Italy)

1:45pm-3:15pm: Alpha-synuclein promoter (SNCA-Rep1) polymorphism is associated with non-motor symptoms in early Parkinson’s disease

ASL. Ng, YJ. Tan, Y. Zhao, ZH. Lu, EYL. Ng, SYE. Ng, NSY. Chia, F. Setiawan, ZY. Xu, KY. Tay, WL. Au, EK. Tan, LCS. Tan (Singapore, Singapore)

1:45pm-3:15pm: Assessing the response to Levodopa/carbidopa intestinal gel infusion based on genetic status

A. Thaler, V. Livneh, A. Hillel, H. Strauss, G. Yahalom, H. Shabtai, A. Migirov Senderovich, S. Israeli-Korn, T. Fay-Carmon, N. Giladi, S. Hassin Baer, T. Gurevich (Ramat Gan, Israel)

1:45pm-3:15pm: Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study

O. Gebus, M. Renaud, M. Koenig, J. Chelly, C. Tranchant, M. Anheim (Strasbourg, France)

1:45pm-3:15pm: Association analysis between SCNN1A rs10849446, SPTLC3 rs6041636 and rs627354 and Parkinson’s disease and multiple system atrophy in a large Chinese population

XJ. Gu, YP. Chen, RW. Ou, B. Cao, HF. Shang (Chengdu, China)

1:45pm-3:15pm: Associations of microtubule associated protein tau (MAPT) H1 subhaplotypes and the MAPT H2 haplotype with demographic and clinical features in Parkinson`s disease

A. Deutschlander, M. Heckman, T. Konno, M. Ossi, N. Diehl, A. Soto, A. Strongosky, R. Uitti, J. van Gerpen, O. Ross, W. Zbigniew (Jacksonville, FL, USA)

1:45pm-3:15pm: BeaT-PD, An Industry-Academic Collaboration to Understand PD Progression in Ashkenazi Jews

N. Giladi, A. Orr-Urtreger, M. Gana-Weisz, A. Thaler, O. Goldstein, M. Lalioti, K. Evans, M. Hutchison, O. Mabrouk, A. Dowling, T. Fox, M. Yang, K. Parekh, E. Even Sapir, D. Ben Baast, M. Artzi, H. Lerman, L. Yachimovich, B. Cohen, S. John, A. Mirelman, J. Cederbaum (Tel Aviv, Israel)

1:45pm-3:15pm: Clinicopathologic Characterization and Abnormal Autophagy of HDLS

W. Tian, L. Cao, S. Chen (Shanghai, China)

1:45pm-3:15pm: Comparison of Gene Expression in Parkinson’s Disease and Bipolar Disorder

FV. Delos Reyes (Quezon City, Philippines)

1:45pm-3:15pm: Dementia with Lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile

S. Lerche, G. Machetanz, I. Wurster, B. Roeben, M. Zimmermann, A. Pilotto, A-K. Hauser, C. Schulte, I. Lachmann, T. Gasser, D. Berg, W. Maetzler, K. Brockmann (Tübingn, Germany)

1:45pm-3:15pm: Detection of genetic modifiers in PRKN

K. Ogaki, H. Nakaoka, K. Daida, A. Hayashida, A. Ikeda, Y. Li, H. Yoshino, M. Funayama, K. Nishioka, I. Inoue, N. Hattori (Tokyo, Japan)

1:45pm-3:15pm: Determining Outcome of Deep Brain Stimulation Surgery in Parkinson’s Disease Patients

E. Yoon, S. Ahmed, S. Bandres-Ciga, S. Scholz, C. Lungu, D. Hernandez, A. Singleton, D. Ehrlich (Bethesda, MD, USA)

1:45pm-3:15pm: Development of a web-based tool for systematic collection of phenotypes of hereditary movement disorders from medical literature

J. Lee, S. Fujioka, S. Hong, N. Kim, Y. Kim, H. Ma, Y. Tsuboi, Y. Kim (Anyang, Republic of Korea)

1:45pm-3:15pm: Differential Gene Expression in Parkinson Disease and Chronic Traumatic Encephalopathy

FV. Delos Reyes (Quezon City, Philippines)

1:45pm-3:15pm: Dissecting the genetic complexity of Parkinson’s disease: a Parkin-GBA study

Z. Hanss, I. Boussaad, F. Massart, J. Jarazo, R. Krüger (Belvaux, Luxembourg)

1:45pm-3:15pm: Early onset parkinsonism and optic atrophy due to SLC25A46 mutations

G. Bitetto, MC. Malaguti, E. Monfrini, A. Di Fonzo (Milan, Italy)

1:45pm-3:15pm: Effect of polygenic load on striatal dopaminergic deterioration in Parkinson’s disease

KJ. Pak, MJ. Lee (Busan, Republic of Korea)

1:45pm-3:15pm: Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations

M. Borsche, I. König, S. Delcambre, S. Petrucci, A. Balck, T. Gasser, N. Brüggemann, S. Pereira, K. Badanjak, K. Brockmann, E M. Valente, R. Youle, A. Grünewald, C. Klein (Lübeck, Germany)

1:45pm-3:15pm: Expression profiles from CD14+ monocytes in PD patients with GBA mutations

G. Riboldi, E. Udine, E. Navarro, M. Parks, B. Henderson, K. Sharma, T. Sikder, M. Zhuang, J. Crary, S. Frucht, T. Raj (New York, NY, USA)

1:45pm-3:15pm: Fine-mapping of SNCA variants in REM sleep behavior disorder identifies distinct associations

L. Krohn, R. Wu, J. Ruskey, S. Laurent, L. Philstrom, I. Arnulf, M. Hu, Y. Dauvilliers, B. Hogl, A. Stefani, E. Holzknecht, C. Monaca, A. Beatriz, G. Plazzi, E. Antelmi, L. Ferini-Strambi, A. Heidbreder, V. Cochen, B. Mollenhauer, K. Sonka, M. Figorilli, F. Dijkstra, M. Viaene, W. Oertel, J. Gagnon, M. Nalls, C. Blauwendraat, A. Singleton, A. Desautels, J. Montplaisir, O. Ross, B. Boeve, N. Dupre, E. Fon, R. Postuma, G. Rouleau, Z. Gan-Or (Montreal, QC, Canada)

1:45pm-3:15pm: Fragile X syndrome presenting with levodopa unresponsive parkinsonism

J. Mayer, J. Panicker, S. Alusi (Liverpool, United Kingdom)

1:45pm-3:15pm: GBA and ATP13A mutation and PD: clinical phenotype, eye movements and pathogenic implications

GM. Riboldi, J. Martone, J. Rucker, JR. Rizzo, T. Hudson, W. Dauer, S. Frucht (New York, NY, USA)

1:45pm-3:15pm: GBA mutation: Linking Parkinson’s and Gaucher’s Diseases

C. Sarabia-Tapia, S. Lopez-Alamillo, N. Monroy-Jaramillo, D. Davila-Ortiz, M. Rodriguez-Violante, A. Cervantes-Arriaga (Mexico City, Mexico)

1:45pm-3:15pm: GBA p.Glu326Lys substitution increases the risk to develop Parkinson’s disease; is it enough to affect disease phenotype?

O. Goldstein, M. Gana- Weisz, D. Cohen-Avinoam, A. Bar-Shira, A. Thaler, T. Shiner, A. Mirelman, N. Giladi, A. Orr-Urtreger (Tel Aviv, Israel)

1:45pm-3:15pm: GBA1 biomarkers in longitudinal CSF: GCase, Sphingolipids and alpha-synuclein

S. Lerche, C. Schulte, G. Machetanz, I. Wurster, B. Röben, M. Zimmermann, C. Deuschle, A. Hauser, I. Liepelt-Scarfone, J. Böhringer, I. Krägeloh-Mann, I. Lachmann, W. Maetzler, T. Gasser, M. Mielke, D. Berg, K. Brockmann (Tuebingen, Germany)

1:45pm-3:15pm: Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity

S. Montaut, C. Tranchant, N. Drouot, G. Rudolf, C. Guissart, J. Tarabeux, T. Stemmelen, A. Velt, C. Fourrage, P. Nitschke, B. Gerard, JL. Mandel, M. Koenig, J. Chelly, M. Anheim (Paris, France)

1:45pm-3:15pm: Genetic analysis of DNA methylation and hydroxymethylation genes in Parkinson’s disease

L. Qin, L. Shu, B. Tang, Q. Xu (Changsha, China)

1:45pm-3:15pm: Genetic markers revealed in dysregulated pathways in ischemic stroke may lead to Parkinson’s disease

H. Singh, V. Swarup, A. Srivastava (Marseille, France)

1:45pm-3:15pm: Genetic panel testing in Parkinson’s disease

T. Toomsoo, I. Rubanovich, I. Kalju, S. Ott, A. Lindmäe, M. Mällo, K. Jaakson, K. Joost, K. Vender (Tallinn, Estonia)

1:45pm-3:15pm: Genetic polymorphism (rs6971) in translocator protein (TSPO) and its clinical relevance in Parkinson’s disease

P. Surathi, M. Matarazzo, A. Sethi, J. Mckenzie, N. Neilson, R. Ross, M. Schulzer, M. Farrer, S. Booromand, J. Stoessl (Vancouver, BC, Canada)

1:45pm-3:15pm: Genetic study of patients with Parkinson’s disease subjected to second line therapies

F. Carrillo, S. Jesus, T. Periñan, R. Escuela, D. Buiza, MA. Labrador, M. Carrión, A. Adarmes, D. Macias, P. Gomez-Garre, P. Mir (Seville, Spain)

1:45pm-3:15pm: Hereditary and geneological aspects of Parkinson’s disease and essential tremor in people of Uzbek nationality

R. Matmurodov, K. Khalimova (Tashkent, Uzbekistan)

1:45pm-3:15pm: Heterozygous DCC mutations, more than congenital mirror movements

S. Thams, M. Islam, M. Lindefeldt, A. Nordgren, T. Granberg, D. Nilsson, M. Paucar (Stockholm, Sweden)

1:45pm-3:15pm: High rate of mutations in complex dystonia revealed by exome sequencing

T. Wirth, C. Tranchant, N. Drouot, B. Keren, L. Cif, C. Mignot, R. Lefaucheur, L. Lion-François, A. Méneret, D. Gras, E. Flamand-Roze, C. Laroche, P. Burbaud, S. Bannier, O. Boukbiza, MA. Spitz, V. Laugel, M. Bereau, D. Doummar, G. Rudolf, M. Anheim, J. Chelly (Illkirch-Graffenstaden, France)

1:45pm-3:15pm: Homozygous BZRAP1 mutations cause autosomal recessive dystonia

NE. Mencacci, MM. Brockmann, S. Pajusalu, B. Atasu, P. Gonzalez-Latapi, M. Schwake, B. Balint, A. Papandreou, A. Pittman, J. Simon-Sanchez, S. Wiethoff, TT. Warner, T. Gasser, M. Kurian, E. Lohmann, K. õunap, KP. Bhatia, C. Rosenmund, T. Sudhof, NW. Wood, D. Krainc, C. Acuna Goycolea (Chicago, IL, USA)

1:45pm-3:15pm: Identification of aberrant circulating miRNAs in Parkinson’s disease plasma samples

L. Chen, J. Yang (Tianjin, China)

1:45pm-3:15pm: Identification of genetic alterations and SNCA mutation in Parkinson’s disease patients of Coimbatore Population, India

D. Venkatesan, B. Vellingiri (Coimbatore, India)

1:45pm-3:15pm: Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting

A. Naito, J. Beck, C. Casaceli, A. Hall, K. Marder, M. Nance, M. Schwarzschild, T. Simuni, R. Alcalay (Miami, FL, USA)

1:45pm-3:15pm: Intronic pentanucleotide TTTCA repeat insertions do not cause familial and sporadic cortical myoclonic tremor with epilepsy in the UK

WY. Yau, H. Houlden (London, United Kingdom)

1:45pm-3:15pm: Is the gene expression of TAF1 modified by the X-linked dystonia-parkinsonism-associated hexanucleotide repeat?

K. Grütz, S. Schaake, B. Laabs, CJ. Reyes, U. Walter, D. Dressler, RD. Jamora, RL. Rosales, N. Brüggemann, K. Lohmann, IR. König, C. Klein, A. Westenberger (Lübeck, Germany)

1:45pm-3:15pm: Longitudinal CSF-profile and brain pathology mirrors clinical course of LRRK2-Related Parkinson’s Disease

I. Wurster, S. Lerche, I. Lachmann, M. Neumann, T. Gasser, K. Brockmann (Tübingen, Germany)

1:45pm-3:15pm: Longitudinal DNA methylation changes, in blood, associated with Parkinson’s disease progression

A. Henderson, K. Fisch, J. Hua, E. Driver-Dunckley, C. Sherzer, P. Desplats, T. Dunckley (Tempe, AZ, USA)

1:45pm-3:15pm: LRP10 variants and Parkinson’s disease in the Chinese population

JN. Foo, E. Chew, M. Lian, M. Tandiono, EK. Tan (Singapore, Singapore)

1:45pm-3:15pm: Mechanism-based classification in PD cohorts

B. Labrador, F. Danjou, S. Bekadar, FX. Lejeune, H. Froehlich, M. Hofmann-Apitius, JC. Corvol (Paris, France)

1:45pm-3:15pm: Methylation status of SNCA gene in patients with Parkinson disease in Russian population

E. Iakovenko, N. Abramycheva, S. Illarioshkin, E. Fedotova (Moscow, Russian Federation)

1:45pm-3:15pm: Modern aspects of genetics of child cerebral palsy with symptomatic epilepsy

D. Aminova (Tashkent, Uzbekistan)

1:45pm-3:15pm: MYORG is associated with recessive primary familial brain calcification

D. Arkadir, A. Lossos, D. Rahat, M. Abu Snineh, V. Meiner (Jerusalem, Israel)

1:45pm-3:15pm: Neurofascin is a novel gene associated with autosomal recessive spastic and polyneuropathy

L. Straniero, E. Monfrini, S. Bonato, G. Monzio Compagnoni, A. Bordoni, R. Dilena, R. Silipigni, D. Ronchi, S. Duga, A. Di Fonzo (Pieve Emanuele, Milan, Italy)

1:45pm-3:15pm: Novel p.Pro193Arg missense mutation in ABCD1-gene associated with phenotype of ALD/AMN: a case report

K. Steidel, J. Waldthaler, C. Eggers, D. Pedrosa (Marburg, Germany)

1:45pm-3:15pm: Parkinson’s disease patients with both GBA and LRRK2 mutations are phenotypically similar to LRRK2 – a possible protective effect?

N. Omer, A. Thaler, L. Goldstein, A. Orr-Urtreger, M. Gana Weisz, O. Goldstein, D. Cohen Avinoam, M. Kestenbaum, M. Lioti, S. John, J. Cederbaum, A. Mirelman, N. Giladi (Tel Aviv, Israel)

1:45pm-3:15pm: Parkinson’s disease Polygenic Risk Factor Scores in Patients with Inflammatory Bowel Disease

H. Maghzi, D. Li, E. Hogg, A. Garland-Becerra, E. Tan, A. Maghzi, D. Mcgovern, M. Tagliati (Los Angeles, CA, USA)

1:45pm-3:15pm: Parkinsonism and other motor features in familial frontotemporal dementia with mutations in the MAPT, GRN, or C9orf72 gene (LEFFTDS cohort)

A. Deutschlander, R. Savica, M. Heckman, D. Brushaber, J. Syrjanen, H. Rosen, A. Boxer, B. Boeve, Z. Wszolek (Jacksonville, FL, USA)

1:45pm-3:15pm: PRECISE-PD: From pathophysiology to precision medicine for Parkinson’s disease

JC. Corvol, S. Durrleman, S. Lehericy, D. Devos, W. Meissner, E. Bezard, D. Grosset, H. Morris, O. Monchy, EA. Fon, F. Durif, F. Tubach, Y. de Rycke, O. Rascol (Paris, France)

1:45pm-3:15pm: Prevalence of Fabry disease among patients with Parkinson’s disease

A. Mosejova, S. Oppermann, V. Han, P. Dosekova, J. Cobejova, M. Cobej, P. Levicka, S. Liesenerova, T. Lorincova, M. Ostrozovicova, D. Sendekova, V. Sukovska, Z. Gdovinova, P. Bauer, M. Skorvanek (Kosice, Slovakia)

1:45pm-3:15pm: Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification

A. Kievit, L. Zutven, A. Boon (Rotterdam, Netherlands)

1:45pm-3:15pm: Reviewing the clinical and mutational spectrum of SLC20A2, PDGFB, PDGFRB, XPR1 and MYORG mutations in Primary Familial Brain Calcification (PFBC) for MDSGene

A. Balck, S. Schaake, J. Margolesky, A. Domingo, C. Klein, A. Westenberger (Lubeck, Germany)

1:45pm-3:15pm: Screening of mutations in PARK2 gene and Dopamine levels in Parkinson’s disease (PD) patients in Coimbatore population, India

B. Vellingiri, D. Venkatesan (Coimbatore, India)

1:45pm-3:15pm: Sequencing of single human nigral dopaminergic neurons for somatic copy number variants

D. Perez-Rodriguez, M. Kalyva, S. Santucci, K. Mokretar, M. Leija-Salazar, A. Schapira, T. Lashley, J. Holton, C. Proukakis (London, United Kingdom)

1:45pm-3:15pm: Serum MIR-96-5P and MIR-339-5P as a Potential Biomarker for Multiple System Atrophy and Parkinson’s Disease

A. Vallelunga, T. Iannitti, S. Capece, G. Somma, G. Dati, P. Barone, W. Meissner, M. Pellecchia (Salerno, Italy)

1:45pm-3:15pm: SLC6A4 repeat and single-nucleotide polymorphisms are associated with depression and rest tremor in Parkinson’s disease

X. Zhang, M. Zou, R. Liu, J. Wang, Q. Fan (Wenzhou, China)

1:45pm-3:15pm: Sleep Aspects on Video-Polysomnography in P.A53T SNCA Mutation Carriers

AM. Simitsi, C. Koros, M. Stamelou, D. Papadimitrioy, A. Bougea, I. Pachi, N. Papagiannakis, R. Antonelou, E. Angelopoulou, K. Lourentzos, L. Stefanis, A. Bonakis (Athens, Greece)

1:45pm-3:15pm: SNCA G51D missense mutation causing juvenile onset Parkinson’s disease

C. Cooper, J. Goldman, C. Zabetian, I. Mata, J. Leverenz (Chicago, IL, USA)

1:45pm-3:15pm: SNP assessment and gene expression analysis of alpha-synuclein (SNCA), LRRK2 gene and parkin (PRKN) gene in chewing tobacco exposures and find out the risk of Parkinson’s disease

R. Ramachandran, E. E, V. Uthayakumar (Erode, India)

1:45pm-3:15pm: Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations

G. Buda, S. Vishnopolska, J. Oliveri, F. Olivieri, G. Biagioli, L. Miquelini, A. Pellene, M. Marti, C. Calandra (Buenos Aires, Argentina)

1:45pm-3:15pm: Spastic Paraplegia Type 64: a Case Series

KCD. Donis, LAP. Paskulin, RBT. Tenório, JWR. Rocha, TOS. Silva, JMS. Saute (Porto Alegre, Brazil)

1:45pm-3:15pm: Targeted deep sequencing of brain DNA for detection of somatic point mutations in synucleinopathies

M. Leija-Salazar, A. Pittman, K. Mokretar, A. Schapira, C. Proukakis (London, United Kingdom)

1:45pm-3:15pm: Targeted NGS of genes related to hereditary and sporadic NDDs and movement disorders in Italian cohort

G. Dati, M. Picillo, M. Ginevrino, A. Vallelunga, MT. Pellecchia, EM. Valente, P. Barone (Baronissi, Italy)

1:45pm-3:15pm: The effect of ADORA2A gene polymorphism on the dyskinesia of Parkinson’s Disease

BC. Ari, F. Mayda Domac, G. Ozgen Kenangil, N. Imamova, A. Cinar Kuskucu (Istanbul, Turkey)

1:45pm-3:15pm: The Genetic Basis of paediatric movement disorders: experience from the SYNaPS Study

R. Maroofian, V. Salpietro, H. Houlden (London, United Kingdom)

1:45pm-3:15pm: The longevity gene Klotho and its CSF protein profiles as modifier for Parkinson´s disease in a longitudinal study

M. Zimmermann, S. Lerche, C. Schulte, I. Wurster, G. Machetanz, C. Deuschle, A. Hauser, T. Gasser, D. Berg, E. Schleicher, W. Maetzler, K. Brockmann (Tuebingen, Germany)

1:45pm-3:15pm: The PLA2G6 Gene Mutation Causes Parkinson’s Disease: A Case Report

L. Kou, T. Wang, L. Liu, GX. Zhang (Wuhan, China)

1:45pm-3:15pm: The potential modifier effect of C9orf72 DNA methylation in C9ORF72 carriers

JM. Laffita-Mesa, CH. Kreidy, M. Paucar, P. Svenningsson (Stockholm, Sweden)

1:45pm-3:15pm: The role of genetic modifiers in Parkinson’s disease-associated LRRK2-G2019S mutation

T. Courtin, G. Ianello, H. Bertrand, S. Benromdhan, C. Tesson, C. Mhiri, JC. Corvol, S. Lesage, A. Brice (Paris, France)

1:45pm-3:15pm: The role of LRP10 mutations in Parkinson’s Disease and Dementia with Lewy Bodies

A. Manini, E. Monfrini, L. Straniero, M. Vizziello, G. Franco, S. Duga, A. Di Fonzo (Milan, Italy)

1:45pm-3:15pm: The role of X-chromosome inactivation in the penetrance of X-linked dystonia-parkinsonism in women

CJ. Reyes, R. Ardicoglu, R. Rosales, RD. Jamora, CC. Diesta, K. Grütz, H. Pawlack, A. Domingo, C. Klein, A. Westenberger, N. Brüggemann (Lübeck, Germany)

1:45pm-3:15pm: TPK1 mutation induced childhood onset dystonia and dyskinesia

L. Au, A. Chan, C. Lau, V. Mok (Hong Kong, Hong Kong)

1:45pm-3:15pm: Tremor and parkinsonism in Chromosomopathies – a systematic review

V. Carvalho, L. Guedes (Matosinhos, Portugal)

1:45pm-3:15pm: Using whole genome sequencing and intronic sequence analysis to identify pathogenic variants in Parkin-related Parkinson’s Disease

R. Davis, K. Kumar, F. Edema-Hildebrand, J-S. Park, B. Koentjoro, V. Gayevskiy, M. Cowley, N. Blair, C. Sue (St Leonards, Australia)

1:45pm-3:15pm: Variants in the beta-Glucocerebrosidase A (GBA) gene in German patients with Parkinson´s disease

A. Deutschlander, A. Wernick, R. Walton, A. Soto, O. Ross, Z. Wszolek (Jacksonville, FL, USA)

1:45pm-3:15pm: WES analysis of Parkinson’s disease patients with Cancer

Y. Gao, G. Wang, X. Xie (Shanghai, China)

1:45pm-3:15pm: Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion

P. Dosekova, V. Habalova, M. Skirkova, V. Han, A. Mosejova, Z. Gdovinova, M. Skorvanek, R. Ploski (Kosice, Slovakia)

1:45pm-3:15pm: Wilson disease: a systematic review and meta-analysis in phenotype – genotype correlations

M. Ruiz-Lopez, A. Abrahao, ME. Freitas, J. Trinh, S. Fox (Madrid, Spain)

« View all sessions from the 2019 International Congress.