MDS Abstracts

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

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  • 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.…
  • 2016 International Congress

    Familial Parkinson’s disease in the Province of Quebec

    L.L. Farrell, E. Pourcher, E. Nosova, M. McKenzie, I. Guella, D.M. Evans, C. Déry, M.J. Farrer (Vancouver, BC, Canada)

    Objective: We describe clinical, genealogic and genetic studies in several families with multi-incident Parkinson's disease (PD). Background: PD is a multifactorial trait for which components…
  • 2016 International Congress

    Clinical exome sequencing – diagnostic yield in a sample of German patients with Parkinson’s disease

    B. Schormair, G. Machetanz, B. Mollenhauer, C. Trenkwalder, J. Winkelmann (Neuherberg, Germany)

    Objective: To assess the diagnostic yield of clinical exome sequencing (CES) in individuals with Parkinson's disease (PD) seen in a specialized movement disorder clinic. Background:…
  • 2016 International Congress

    Coding and non-coding glucocerebrosidase variants have an impact on cognitive decline in Parkinson’s disease

    C. Schulte, I. Liepelt-Scarfone, C.E. Hagen, A.K. Hauser, K. Brockmann, T. Gasser, J.B. Schulz, K. Reetz, S. Gräber, B. Mollenhauer, C. Trenkwalder, K. Witt, N. Schmidt, R. Dodel, M. Balzer-Geldsetzer, U. Wüllner, T. Klockgether, A. Spottke, A. Storch, H.U. Wittchen, O. Riedel, S. Baudrexel, E. Kalbe, D. Berg, M.M. Mielke (Tübingen, Germany)

    Objective: To evaluate the impact of genetic variants in the Glucocerebrosidase gene (GBA) on cognitive impairment in a large cohort of Parkinson's disease (PD) patients…
  • 2016 International Congress

    Longitudinal evaluation of motor and non motor symptoms among LRRK2 risk variants

    E.W. Lim, X. Deng, H.H. Li, P. Kumar M, Y.L. Ng, Y.L. Lo, E.K. Tan (Singapore, Singapore)

    Objective: To evaluate the clinical characteristics and progression of Parkinson's disease (PD) in patients with Asian-related LRRK2 variants, G2385R, R1628P and S1647T. Methods: A total…
  • 2016 International Congress

    High throughput pooled-DNA sequencing of mendelian/susceptibility Parkinson’s disease genes in Spanish population

    S. Ortega-Cubero, O. Lorenzo-Betancor, E. Lorenzo, B.A. Benitez, C. Cruchaga, L. Samaranch, M. Diez, J.A. Obeso, M.C. Rodriguez-Oroz, M. Aguilar, M.A. Pastor, P. Pastor (Palencia, Spain)

    Objective: The primary outcome of our study was the identification of rare variants in 5 major Mendelian PD genes (SNCA, PARK2, PINK1, DJ1, LRRK2) and…
  • 2016 International Congress

    Study on association between physical and genetics role in essential tremor – A case control study

    K. Kalimuthu, C. Ramachandran, M. Kadarkarai, V. Savariar (Coimbatore, India)

    Objective: To elucidate the relationships between physical and genetics parameters in essential tremor patients and controls. Tremor is an involuntary, rhythmic shaking of any part…
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