MDS Abstracts

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

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  • 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…
  • 2016 International Congress

    Interest in genetic testing in Parkinson’s disease patients with deep brain stimulation

    G. Pal, E. Tam, R. Bhavsar, C. Timms, L. Verhagen, D. Hall, K. Marder (Chicago, IL, USA)

    Objective: To determine interest in genetic testing in Parkinson's disease (PD) patients with deep brain stimulation (DBS). Background: Approximately 27% of early-onset PD patients with…
  • 2016 International Congress

    SMPD1 mutations, acid-sphingomyelinase activity and α-synuclein accumulation in Parkinson’s disease

    Z. Gan-Or, V. Mallett, O. Tavassoly, Y. Dauvilliers, C. Leblond, A. Ambalavanan, S. Laurent, S. Strong, D. Spiegelman, A. Dionne-Laporte, C. Liong, O. Levy, S. Fahn, C. Waters, P. Mazzoni, S. Kuo, W. Chung, B. Ford, K. Marder, U. Kang, P. Wolf, P. Oliva, X. Zhang, L. Clark, P. Dion, E. Fon, N. Dupre, G. Rouleau, R. Alcalay (Montreal, Canada)

    Objective: To study the effects of SMPD1 (sphingomyelin phosphodiesterase-1 gene) variants and acid-sphingomyelinase (ASMase) activity on Parkinson's disease (PD), and the effect of SMPD1 knockdown…
  • 2016 International Congress

    Assessment of Parkinson’s disease risk loci as DNA methylation quantitative trait loci

    D.G. Hernandez, C. Letson, J. Simon-Sanchez, T.R. Price, M.A. Nalls, A.B. Singleton (Bethesda, MD, USA)

    Objective: To gain potential mechanistic insight into the pathogenesis of Parkinson's disease (PD), a map of DNA methylation in normal human brain assessing 486,428 CpG…
  • 2016 International Congress

    Analysis of the genetic variability in Parkinson’s disease from southern Spain

    S. Bandres-Ciga, N.E. Mencacci, R. Durán, F.J. Barrero Hernández, F. Escamilla-Sevilla, S. Morgan, J. Hehir, F. Vives, J. Hardy, A.M. Pittman (Granada, Spain)

    Objective: Our study was to assess the contribution of known genes in a cohort diagnosed with either familial (FPD) or early-onset sporadic PD (EOPD) from…
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