MDS Abstracts

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

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Articles tagged "Mitochondrial dysfunction"

  • 2017 International Congress

    MitoQ and Reduced Glutathione Protects Against Dopamine Induced Brain Mitochondrial Electron Transport Chain Inhibition During Extended In Vitro Incubation: Involvement of Free Radicals and Quinone Products

    A. MAITI (Bengaluru, India)

    Objective: To study the impact of MitoQ and GSH against DA induced rat brain mitochondrial electron transport chain inhibition during extended in vitro incubation. Background:…
  • 2017 International Congress

    NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

    B. Balint, G. Charlesworth, M. Stamelou, L. Carr, N. Wood, K. Bhatia (London, United Kingdom)

    Objective:  To elucidate the genetic cause of a distinct combined dystonia syndrome, inherited in an autosomal recessive fashion in a small UK kindred [Figure1A]. Background:…
  • 2016 International Congress

    Fast and simple non-invasive screening tool for mitochondrial changes in Huntington’s disease

    P. Dušek, M. Rodinová, I. Lišková, E. Trefilová, Z. Ellederová, J. Klempír, J. Roth, H. Hansíková (Prague, Czech Republic)

    Objective: To use Complex I and Complex IV Human Protein Quantity Dipstick Assay Kits to analyse mitochondrial changes in buccal epithelial cells of patients with…
  • 2016 International Congress

    Three cases of neuronal intranuclear inclusion disease (NIID)

    Y. Miyamoto, Y. Morita, K. Furuta, Y. Osaki, H. Arahata, A. Watanabe, N. Fujii, T. Iwaki, H. Furuya (Kochi, Japan)

    Objective: Here, we present three NIID cases. One of them, autopsy was performed. Background: Neuronal intranuclear inclusion disease (NIID)(OMIM 603472) is a neurodegenerative disorder characterized…
  • 2016 International Congress

    Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea

    H.J. Yang, J.M. Lee, J.H. Kwon, S.T. Lee, H.J. Kim, B. Jeon (Ulsan, Korea)

    Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…
  • 2016 International Congress

    Genetic analysis of CHCHD2 gene in Parkinson’s disease in a Taiwanese population

    T.S. Fan, H.I. Lin, C.H. Lin, R.M. Wu (Taipei, Taiwan)

    Objective: To evaluate the genetic mutations of CHCHD2 gene in Taiwanese Parkinson's disease patients. Background: A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain–containing…
  • 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

    Mitochondrial dysfunction in skin fibroblasts from single heterozygous ATP13A2 (PARK9) mutation carriers

    J.S. Park, C. Klein, C.M. Sue (St. Leonards, Australia)

    Objective: To investigate the pathogenic effect of single heterozygous mutations in ATP13A2, we determined the function and morphological changes of mitochondria in skin fibroblasts derived…
  • 2016 International Congress

    Counteracting PINK1/parkin deficiency by activating alternative mitophagic pathway: a potential therapeutic intervention for Parkinson’s disease

    B. Koentjoro, J.S. Park, C.M. Sue (Sydney, Australia)

    Objective: To identify a new therapeutic target for developing neuroprotective treatment in Parkinson's disease (PD) by improving mitochondrial function through restoration of mitochondrial quality control…
  • 2016 International Congress

    Astroglia exert a neuro-protective role in Parkinson’s disease by reducing oxygen stress through dopamine-induced activation of the pentose-phosphate pathway

    K. Mashima, S. Takahashi, T. Iizumi, T. Abe, N. Suzuki (Tokyo, Japan)

    Objective: Although dopaminergic neurons themselves take up most of the released dopamine (DA), a part of the DA appears to be taken up by astroglia.…
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