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Abstracts from the International Congress of Parkinson’s and Movement Disorders.

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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)

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