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

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Articles tagged "Ataxia: Genetics"

  • 2016 International Congress

    Do mutations in the TGM6 (SCA35) gene cause early-onset Parkinson’s disease?

    A. Westenberger, M. Svetel, N. Dragaševic, I. Brænne, V. Dobricic, A.A. Hicks, A. Tomic, N. Kresojevic, H. Pawlack, K. Grütz, A. Domingo, J. Erdmann, V.S. Kostic, C. Klein (Luebeck, Germany)

    Objective: To identify the genetic cause of early-onset Parkinson's disease (EOPD) in a Serbian family. Background: Hereditary EOPD is a genetically heterogeneous neurodegenerative disorder, characterized…
  • 2016 International Congress

    A largest case series study of spinocerebellar ataxia type 2(SCA2) from India: Do SCA2 clinical subtypes exists?

    A.K. Srivastava, A.K. Sonakar, S. Shakya, V. Suroliya, A. Takkar, I. Ahmad, R.K. Singh, I. Singh, D. Vibha, G. Shukla, V. Goyal, K. Prasad, A. Garg, M. Faruq (New Delhi, India)

    Objective: To study the extent of phenotypic variability in SCA2 families of Indian origin and to identify factors associated with it. Background: SCA2 is a…
  • 2016 International Congress

    Two siblings with action myoclonus renal failure syndrome

    M. Tábuas-Pereira, J. Durães, J. Tomás, A. Gouveia, C.S. Miranda, M.C. Macário (Coimbra, Portugal)

    Objective: To describe two cases of the rare action myoclonus renal failure syndrome. Background: Action Myoclonus Renal Failure syndrome (AMRF) is characterized by neurological symptoms…
  • 2016 International Congress

    Clinical and analytical validation of novel autosomal recessive ataxia mutations identified from whole exome sequencing

    S. Shakya, R. Kumari, A.K. Srivastava, D. Dash, A. Takkar, I. Singh, A. Garg, M. Mukerji, M. Faruq (New Delhi, India)

    Objective: To establish clinical significance of novel recessive ataxia mutations by phenotype-genotype correlation and screening of mutations in second cohort of recessive ataxia patients and…
  • 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…
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