MDS Abstracts

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

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  • 2016 International Congress

    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)

    Objective: To evaluate alterations in the phosphorylated, oligomeric alpha-synuclein and GBA activity levels in plasma from patients with sporadic Parkinson's disease (sPD), PD patients with…
  • 2016 International Congress

    Vitamin D receptor polymorphisms and Parkinson’s disease in a Korean population: Revisited

    W. Jang, J.S. Kim (Gangneung, Korea)

    Objective: We evaluated an association between PD and VDR polymorphisms including BsmI, FokI, ApaI, and TaqI and we also investigated the relationship between VDR polymorphisms…
  • 2016 International Congress

    Transient parkinsonism during pregnancy in patient heterozygous for Gaucher’s disease: Case report

    S. Patel, K. Appleby, H. Fernandez (Cleveland, OH, USA)

    Objective: To present a case of a woman who became transient Parkinsonian during pregnancy and found to have a rare genetic mutation and describe response…
  • 2016 International Congress

    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)

    Objective: To test for an association between LRRK2 mutation and pathological changes in voice. Background: Voice impairment, characterized by reduced volume, breathiness, roughness and exaggerated…
  • 2016 International Congress

    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)

    Objective: A systematic review of autosomal recessive parkinsonism using DJ-1 as an example. Background: MDGene is a genotype-phenotype database for rare mutations in movement disorders…
  • 2016 International Congress

    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)

    Objective: Establish a web resource summarizing literature-based genetic information on levodopa-induced dyskinesia in an easily accessible and consistent way. Background: Levodopa induced dyskinesia (LID) is…
  • 2016 International Congress

    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)

    Objective: To identify the genetic cause of early-onset Parkinson's disease (EOPD) in a Serbian family. Background: Hereditary EOPD is a genetically heterogeneous neurodegenerative disorder, characterized…
  • 2016 International Congress

    Effect of genetic variation in SNCA and APOE on cerebrospinal fluid protein levels in patients with Parkinson’s disease and controls

    G. Machetanz, K. Lohmann, C.M. Lill, C. Klein, C. Trenkwalder, B. Mollenhauer (Kassel, Germany)

    Objective: To determine whether genetic variability constitutes a source of heterogeneity in levels of cerebrospinal fluid (CSF) proteins in patients with Parkinson's disease (PD) and…
  • 2016 International Congress

    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)

    Objective: Decipher the role of ATP13A2 in Parkinson's disease. Background: ATP13A2 is a lysosomal P-type ATPase with significant implications in Parkinson's disease (PD). Little is…
  • 2016 International Congress

    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)

    Objective: Identification of probable drug targets. Background: Parkinson's disease, a motor system disorder, which manifests due to the loss of brain cells that produces dopamine.…
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