MDS Abstracts

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

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  • 2016 International Congress

    Psychogenic movement disorder in cerebellar atrophy

    P. Sommer, D. Földy, O. Khalifa, E. Fertl (Vienna, Austria)

    Objective: Description of a patient with psychogenic movement disorder showing cerebellar atrophy in neuroimaging. Background: Psychogenic movement disorders are typically characterized by abnormal involuntary movements…
  • 2016 International Congress

    Screening for SLC25A46 mutations in familial and sporadic ataxic patients

    S. Efthymiou, C. Bettencourt, H. Houlden (London, United Kingdom)

    Objective: To identify possible mutations of the SLC25A46 gene in patients with various forms of ataxia. Background: Members of the solute carrier family 25 (SLC25)…
  • 2016 International Congress

    Sustained effects of cerebellar transcranial direct current stimulation in patients with ataxia: A randomized, double blind, sham-controlled study

    V. Dell'Era, A. Benussi, M. Cosseddu, A. Padovani, B. Borroni (Brescia, Italy)

    Objective: The present study investigated whether a prolonged session of cerebellar anodal transcranial direct current stimulation (tDCS) could improve symptoms in patients with ataxia at…
  • 2016 International Congress

    STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations

    S.N. Hayer, K. Smets, B. Bender, T. Deconinck, S. Züchner, L. Schöls, R. Schüle, P. De Jonghe, J. Baets, M. Synofzik (Tübingen, Germany)

    Objective: (1) To provide phenotypic and imaging evidence for a widespread neurodegenerative process caused by mutations in CHIP, thus demonstrating a close clinical correspondence to…
  • 2016 International Congress

    Preliminary findings of MR imaging of the entire spinal cord in Friedreich’s ataxia

    K. Reetz, S. Romanzetti, I. Dogan, M.L. Macel, D. Timmann, I.A. Giordano, T. Klockgether, J.B. Schulz (Aachen, Germany)

    Objective: To evaluate abnormalities in the entire spinal cord in patients with Friedreich's ataxia (FRDA) compared to healthy controls using magnetic resonance imaging (MRI) and…
  • 2016 International Congress

    Anti-GAD antibody cerebellar ataxia mimicking multiple system atrophy

    J.B. Parmera, L.S.V. Schneider, R.G. Cury, M.M. Simabukuro, L.H.M. Castro, E.R. Barbosa (São Paulo, Brazil)

    Objective: To describe a case of anti-glutamic acid decarboxylase antibody (GAD-Abs)-associated cerebellar ataxia (CA), which presented with gradual dysautonomia and parkinsonism fulfilling criteria for MSA,…
  • 2016 International Congress

    A cross-sectional study in spinocerebellar ataxia type 12 (SCA-12) patients from a tertiary care center in Eastern India

    S. Chatterjee, R. Banerjee, B. Mondal, M.U. Kulsum, K. Chatterjee, S.S. Jha, P. Chatterjee, S. Choudhury, S.S. Anand, H. Kumar (Kolkata, India)

    Objective: To study phenotype and Quality of life determinant in patients with SCA-12. Background: Spinocerebellar ataxia type 12 (SCA-12) is an extremely rare autosomal dominant,…
  • 2016 International Congress

    Fragile X-associated tremor/ataxia syndrome in two female patients

    L. Hvizdosova, M. Kaiserova, K. Mensikova, P. Kanovsky (Olomouc, Czech Republic)

    Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…
  • 2016 International Congress

    Can quantitative analysis of the “finger-to-nose test” discern between EOA and other conditions of coordination impairment?

    O.E. Martinez Manzanera, T. Lawerman, D.A. Sival, N. Maurits (Groningen, Netherlands)

    Objective: In Early Onset Ataxia (EOA), we investigated whether quantitative analysis employing motion sensors could provide reliable and discriminative outcomes. Background: Many pediatric conditions can…
  • 2016 International Congress

    Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series

    D.A. Hall, E. Robertson, J.A. O'Keefe, A.G. Hadd, L. Zhou, E. Berry-Kravis (Chicago, IL, USA)

    Objective: To describe the role of X-inactivation in clinically discordant phenotypes in sisters with a fragile X mental retardation 1 (FMR1) gene premutation but varying…
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