MDS Abstracts

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

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Articles tagged "Ataxia: Genetics"

  • 2016 International Congress

    Modelling spinocerebellar ataxia 15 with iPS cell derived neurons

    S. Wiethoff, C. Arber, S. Wray, Y. Zhi, R. Patani, H. Henry (London, United Kingdom)

    Objective: Here we set out to study the cellular pathology of ITPR1-deletions underlying SCA15 in a human model of iPSC-derived cortical neurons. Background: Spinocerebellar Ataxia…
  • 2016 International Congress

    Hereditary spastic paraplegia caused by heterozygous AFG3L2 and SPG7 mutations

    C.D. Stephen, J.D. Schmahmann (Boston, MA, USA)

    Objective: To report a new late-onset autosomal recessive spastic paraplegia caused by heterozygous mutations in the AFG3L2 and SPG7 genes. Background: The hereditary spastic paraplegias…
  • 2016 International Congress

    Movement disorders are the common signs as the first neurological deficit in cases with spinocerebellar ataxia type 2 (SCA2)

    N. Miyaue, R. Ando, T. Iwaki, H. Yabe, N. Nishikawa, M. Nagai, H. Takashima, M. Nomoto (Ehime, Toohn City, Japan)

    Objective: We studied neurological signs in cases with SCA2 for early diagnosis. Background: SCA2 is a classification of hereditary ataxia, however, patients with SCA2 have…
  • 2016 International Congress

    A novel causal mutation for spinocerebellar ataxia 19/22 (SCA19)

    C.M. Testa, V. Norris, J. Hoder, V. Hagood, R. Lewandowski, G.N. Tseng (Richmond, VA, USA)

    Objective: We report a novel cause for SCA19. We obtained longitudinal exam data on the index case, and data on other family members. We conducted…
  • 2016 International Congress

    Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient

    H.A.G. Teive, C.L. Boguszewski, S. Raskin, C. Buck, S.B. Seminara (Curitiba, Brazil)

    Objective: The aim of this study is to describe a case report of a Brazilian patient with sporadic cerebellar ataxia, associated with hypogonadotropic hypogonadism, and…
  • 2016 International Congress

    Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)

    T.L. Monte, C.L. Lucas, S. Amanda, R. Estela, A. Marina, M.L.S. Pereira, J.L. Pedroso, O. Barsotini, F.R. Vargas, P. Fernanda, R. Castilho, L.B. Jardim (Porto Alegre, Brazil)

    Objective: Describe the clinical findings of a Brazilian cohort of SCA2 patients, stratify them according the presence of sub-phenotypes: cognitive deterioration, sensory loss, amiotrophy, parkinsonism…
  • 2016 International Congress

    Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease

    J.A. Saute, S.N. Gabriele, C.B. Haas, V.R. Torrez, A.W. Brochier, G.V. Furtado, T.C. Gheno, A.D. Russo, T.L. Monte, A. Schumacher-Schuh, R. D´Avila, K.C. Donius, R.M. Castilhos, D.O. Souza, M.L. Saraiva-Pereira, V.L. Torman, S.A. Camey, C.R.M. Rieder, L.V.C. Portela, L.B. Jardim (Porto Alegre, Brazil)

    Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…
  • 2016 International Congress

    Spinocerebellar ataxia 17: First observation in Russia

    S.A. Klyushnikov, D.A. Prikhodko, N.Y. Abramycheva, M.Y. Krasnov, S.N. Illarioshkin (Moscow, Russia)

    Objective: To report the detection of the first case of spinocerebellar ataxia 17 in Russian population. Background: Autosomal dominant spinocerebellar ataxias (AD SCAs) are clinically…
  • 2016 International Congress

    Magnetic resonance imaging in spinocerebellar ataxias: A systematic review

    J.A. Saute, E. Reckziegel, M.C. França Jr, T.J.R. Ribeiro, L.M. Vedolin, L.B. Jardim, A.A. Klaes (Porto Alegre, Brazil)

    Objective: To perform a systematic review about quantitative central nervous system (CNS) magnetic resonance imaging (MRI) techniques findings in patients with Polyglutamine expansion (PolyQ) spinocerebellar…
  • 2016 International Congress

    Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample

    T. Schmitz-Hübsch, S. Lux, A.U. Brandt, P. Bauer, E. Schlapakow, S. Greschus, H. Gärtner, M.E. Kirlangic, V. Gras, D. Timmann, M. Synofzik, N. Shah, L. Schöls, U. Kopp, T. Oberwahrenbrock, H. Zimmermann, C. Pfueller, E.M. Kadas, M. Rönnefarth, A. Grosch, M. Endres, T. Klockgether, K. Amunts, F. Paul, S. Doss, M. Minnerop (Berlin, Germany)

    Objective: To give a concise description of clinical and imaging features of spinocerebellar ataxia type 14 (SCA14). Background: Since its genetic definition in 2003, the…
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