MDS Abstracts

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

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  • 2016 International Congress

    Two cases of parkinsonism with atypical genetics

    J.A. Ribeiro, F. Moreira, J. Beato-Coelho, A.S. Morgadinho, M.R. Almeida, C. Januário (Coimbra, Portugal)

    Objective: To report and discuss two unrelated patients carrying heterozygous mutations in both Parkin (PARK2) and Glucocerebrosidase (GBA) gene, with atypical Parkinsonian features. Background: Parkin…
  • 2016 International Congress

    Genetic variation near the SNCA gene associates with Parkinson’s disease motor phenotype and progression

    C. Cooper, Y. Berlyand, D. Weintraub, S.X. Xie, A. Espay, J. Quinn, K. Edwards, T. Montine, C. Zabetian, A. Chen-Plotkin (Philadelphia, PA, USA)

    Objective: To examine the extent to which single nucleotide polymorphisms (SNPs) are associated with motor phenotype and progression in Parkinson's disease (PD). Background: Tremor-dominant (TD)…
  • 2016 International Congress

    Deletions at 22q11.2 in idiopathic Parkinson’s disease: A combined analysis of GWAS data

    K.Y. Mok, U. Sheerin, J. Simón-Sánchez, A. Salaka, L. Chester, V. Escott-Price, K. Mantripragada, K.M. Doherty, A.J. Noyce, N.E. Mencacci, S.J. Lubbe, International Parkinson's Disease Genomics Consortium (IPDGC), C.H. Williams-Gray, R.A. Barker, K.D. van Dijk, H.W. Berendse, P. Heutink, J.C. Corvol, F. Cormier, S. Lesage, A. Brice, K. Brockmann, C. Schulte, T. Gasser, T. Foltynie, P. Limousin, K.E. Morrison, C.E. Clarke, S. Sawcer, T.T. Warner, A.J. Lees, H.R. Morris, M.A. Nalls, A.B. Singleton, J. Hardy, A.Y. Abramov, V. Plagnol, N.M. Williams, N.W. Wood (London, United Kingdom)

    Objective: To verify the reported association of Parkinson's disease(PD) with Chromosome 22q11.2 Deletion Syndrome(22q11.2DS) in series of large, independent idiopathic PD case-control studies. Background: PD…
  • 2016 International Congress

    Risk prediction modeling in Parkinson’s disease using genetic and environmental/lifestyle factors

    C.M. Lill, Y.H. Chuang, J. Hansen, P.C. Lee, N. Greene, C. Klein, H. Binder, B. Ritz, L. Bertram (Lübeck, Germany)

    Objective: To assess the potential of Parkinson's disease (PD) risk prediction using a comprehensive list of genetic and environmental/lifestyle factors associated with PD. Background: Parkinson's…
  • 2016 International Congress

    Premotor phase of PD in two GBA mutation carriers

    N. Kresojevic, M. Jankovic, I. Petrovic, V. Dobricic, N. Dragasevic, M. Svetel, L. Brajkovic, V. Kostic (Belgrade, Serbia)

    Objective: To identify premotor phase of Parkinson's disease (PD) in obligate GBA heterozygous carriers. Background: GBA mutation carriers are in greater risk of developing PD.…
  • 2016 International Congress

    A novel haplotype in LRRK2 is associated with risk for multiple system atrophy in the Korean population

    L.L. Farrell, E. Scott, H.J. Kim, I. Guella, S. Bortnick, E.M. Nosova, B. Jeon, C.W. Sin, H. Park, S.S. Park, M.J. Farrer (Vancouver, Cameroon)

    Objective: To (1) validate past results by investigating the role of LRRK2 exonic variants in an equivalent Korean series with MSA and (2) identify novel…
  • 2016 International Congress

    Clinical and imaging deterioration of a mild case of Wilson’s disease after chelation therapy

    C. Kleoniki, K. Spiridon, T. Cristos, K. Aristidis (Ioannina, Greece)

    Objective: To present a case of a mild wilson disease with neuropsychiatric features which showed clinical and also imaging deteriotation five months after the chelation…
  • 2016 International Congress

    Triple X syndrome: Are tremors part of its phenotype?

    X. Garcia, M.E. Mohammad, H. Fernandez, I. Itin (Cleveland, OH, USA)

    Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…
  • 2016 International Congress

    Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

    M. Quadri, M. Skorvanek, S. Olgiati, M. Minneboo, J. Graafland, G.J. Breedveld, R. Bonte, Z. Ozgur, K. Schoonderwoerd, F.W. Verheijen, W.F.J. van Ijcken, H. Fen Chien, E. Reis Barbosa, H.C. Chang, S.C. Lai, T.H. Yeh, C.S. Lu, Y.H. Wu-Chou, A.J.A. Kievit, V. Han, Z. Gdovinova, R. Jech, R.M.W. Hofstra, G.J.G. Ruijter, W. Mandemakers, V. Bonifati (Rotterdam, Netherlands)

    Objective: To describe a family with two siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Background: ECHS1 encodes a mitochondrial…
  • 2016 International Congress

    Human, fly and cellular models of riboflavin transporter neuronopathy

    A. Manole, A. Pandraud, M.M. Reilly, J.E.C. Jepson, H. Houlden (London, United Kingdom)

    Objective: A) To find the spectrum of defects in riboflavin transporter genes; B) To ascertain the in-vitro cellular effects of SLC52A2 mutations and riboflavin on…
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