MDS Abstracts

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

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  • 2016 International Congress

    Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress

    M. Dulovic, S. Zittel, A. Rakovic, A. Westenberger, S. Biskup, A. Münchau, C. Klein, P. Seibler (Belgrade, Serbia)

    Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…
  • 2016 International Congress

    Intracerebroventricular D-galactose injection provokes motor coordination impairment and cerebellar damage in Wistar rats

    A.F. Rodrigues, B.S. Zanotto, H. Biasibetti, P. Pierozan, F. Schmitz, E.F. Sanches, D. Delwing Dal Magro, C.A. Netto, A.T.S. Wyse (Brusque, Brazil)

    Objective: The present study was performed to investigate the effect of galactose (GAL) (at concentration in the brain, found in classical galactosemia) on motor coordination…
  • 2016 International Congress

    Clinical profile of Wilson’s disease at Yangon General Hospital, Myanmar

    S.M.M. Aye, K.M.P.P. Kyaw, Z. Myint Shwe, O. Ohnmar, Y.M. Aye, W.M. Thit (Yangon, Myanmar)

    Objective: To evaluate clinical, biochemical and imaging profile of patients with Wilson's Disease (WD). Background: There was no reported case series of WD in Myanmar.This…
  • 2016 International Congress

    The French experience of liver transplantation for severe neurological forms of Wilson disease

    A. Poujois, R. Sobesky, W. Meissner, E. de Medeiros, C. Vanlemmens, A.S. Brunet, E. Broussolle, J.C. Duclos-Vallée, F. Woimant (Paris, France)

    Objective: To evaluate the efficacy of liver transplantation (LT) in patients with severe neurological forms of Wilson disease (WD) who got clinically worse despite a…
  • 2016 International Congress

    Substantial motor and non-motor symptoms in children and adults with classical galactosemia and organic acidurias

    A. Kuiper, M.A. Coenen, W. Eggink, M.A.J. Tijssen, T.J. De Koning (Groningen, Netherlands)

    Objective: To investigate the prevalence of movement disorders (MDs), their impact on quality of life (QoL) and accompanying non-motor symptoms in patients with classical galactosemia…
  • 2016 International Congress

    L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency

    N.K. Iwata, H. Shintaku, S. Shibata, K. Takeda, J. Goto (Tokyo, Japan)

    Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…
  • 2016 International Congress

    Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy

    S.R. Schreglmann, F. Riederer, C. Ganos, G. Kägi, D. Waldvogel, U. Hidding, E. Krasemann, C.R. Baumann, K.P. Bhatia, H.H. Jung, L. Michels (London, United Kingdom)

    Objective: To describe the prevalence and phenotype of movement disorders (MDs) in patients with mitochondrial cytopathy (MC) and corresponding pattern of cerebral atrophy. Background: MCs…
  • 2016 International Congress

    Bristle hair may point to hereditary spastic paraplegia type SPG35/ FAHN

    T.W. Rattay, A.S. Söhn, K.N. Karle, S. Wiethoff, J. Reichbauer, M. Döbler-Neumann, I. Krägeloh-Mann, A. Münchau, B. Wilken, P. Bauer, L. Schöls, R. Schüle (Tübingen, Germany)

    Objective: Finding new phenotypic features or biomarkers in hereditary spastic paraplegia type SPG35 / Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) to help clinicians to identify this…
  • 2016 International Congress

    Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings

    Y. Xing, J.R. Friedman (La Jolla, CA, USA)

    Objective: To describe FA2H mutations, one novel, in siblings with SPG35 with symptoms responsive to levodopa. Background: Hereditary spastic paraplegia (HSP) is a phenotypically and…
  • 2016 International Congress

    Deficiency of HGprt in Lesch-Nyhan disease is associated with abnormal dopaminergic neurodevelopment in vivo

    J.E. Visser, J.S. Witteveen, N.H.M. van Bakel, G.J.M. Martens, S.M. Kolk (Nijmegen, Netherlands)

    Objective: To determine the in vivo effects of hypoxanthine-guanine phosphoribosyl transferase (HGprt) deficiency on dopaminergic neurodevelopment in a genetic mouse model of Lesch-Nyhan disease (LND).…
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