MDS Abstracts

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

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  • 2016 International Congress

    A heterozygous splicing variant in NPC2 in a patient with PSP

    C. Castro-Fernández, C. García-Sancho, V. Rodríguez-Sureda, R. Martínez-Regueiro, P. Aguiar, P. Blanco-Arias, C. Pérez-Sousa, P. Díaz, C. Domínguez, M. Fernández-Prieto, T. García-Sobrino, J. Cortés, M. Arias, M.J. Sobrido (Santiago de Compostela, Spain)

    Objective: Clinical, neuroimaging, genetic and biochemical characterization of a patient with a PSP-like phenotype carrying a splicing mutation in NPC2. Background: Niemann-Pick type C disease…
  • 2016 International Congress

    Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation

    N. Sozer Topcular, S. Cagirici, A. Bajrami, E. Demir, H. Akçakaya, V. Yayla (Istanbul, Turkey)

    Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…
  • 2016 International Congress

    Two siblings with action myoclonus renal failure syndrome

    M. Tábuas-Pereira, J. Durães, J. Tomás, A. Gouveia, C.S. Miranda, M.C. Macário (Coimbra, Portugal)

    Objective: To describe two cases of the rare action myoclonus renal failure syndrome. Background: Action Myoclonus Renal Failure syndrome (AMRF) is characterized by neurological symptoms…
  • 2016 International Congress

    Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi

    A.D. Magalhães, L. Correia Guedes, M. Coelho, T. Teodoro, A. Valadas, H. Carvalho, B. Cattoni, J.J. Ferreira (Lisbon, Portugal)

    Objective: We present a novel homozygous PLA2G6 mutation and response to Deep Brain Stimulation (DBS). Background: Neurodegeneration with brain iron accumulation (NBIA) type 2/PLA2G6 is…
  • 2016 International Congress

    Generation of human induced pluripotent stem cells carrying a safety bet for cell-based therapy in Parkinson’s disease

    Y. Kimura, Y. Kanemura, T. Shofuda, M. Onodera, M. Oda, M. Nakamori, T. Nakano, H. Mochizuki (Osaka, Japan)

    Objective: To increase the safety of future cell-based therapy in Parkinson's disease, we generated human induced pluripotent stem cells (hiPSCs) possessing a safety switch via…
  • 2016 International Congress

    Comparison of two protocols for neural induction and cultivation of iPSCs derived neural stem cells

    M.G. Pauly, P. Capetian, B. Meier, V. Krajka, F. Stengel, P. Seibler, C. Klein (Lübeck, Germany)

    Objective: Our objective was to establish and evaluate a protocol for deriving proliferative neural cultures from induced pluripotent stem cells (iPSC). Background: For generating patient…
  • 2016 International Congress

    Functional characterisation and the selective vulnerability of SNCA (A30P) patient-derived midbrain dopaminergic neurons to ER stress

    P.A. Barbuti, B.F.R. Santos, S. Delcambre, Y. Nonnenmacher, C.D. Obermaier, A. Hummel, K. Hiller, R. Krueger (Belvaux, Luxembourg)

    Objective: To functional characterise and phenotype the genetic Parkinson's disease (PD) patient with an A30P point mutation in SNCA using midbrain dopaminergic neurons (mDANs) vs…
  • 2016 International Congress

    Characterisation of the A30P mutation in alpha-synuclein gene in patient-derived cellular model of Parkinson’s disease

    B.F.R. Santos, P.A. Barbuti, I. Boussaad, A. Hummel, R. Krüger (Belval, Luxembourg)

    Objective: In this study, we aim to generate and characterise patient-derived midbrain dopaminergic neurons (mDANs) of the A30P Parkinson's disease (PD) familial case. Our goal…
  • 2016 International Congress

    Clinical and neuroimaging outcomes up to 18 years after fetal tissue transplant for Parkinson’s disease

    C. Henchcliffe, J. Carter, A. Hanineva, Y. Kang, J. Babich, S.M. Gollomp, A.P. Strafella, A. Fasano, L.D. Ravdin, N. Hellmers, C. McRae (New York, NY, USA)

    Objective: To characterize clinical and radiological outcomes in 4 patients with Parkinson's disease (PD) at 16-18 years post-transplant of fetal ventral mesencephalic (fVM) tissue into…
  • 2016 International Congress

    Unconventional chaperone inhibits alpha-synuclein amyloid formation by promoting off-pathway aggregation

    J. Bieschke, E. Illes-Toth, M. Shah, N. Wu, S. Verzini, P. Selenko, E. Wanker (Saint Louis, MO, USA)

    Objective: To find new potential druggable targets that prevent alpha-synuclein aggregation and toxicity in Parkinson's disease. Background: Alpha-synuclein (aS) is the primary protein deposited in…
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