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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

    Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia

    W. Nachbauer, A. Schossig, C. Fauth, W. Poewe, S. Boesch (Innsbruck, Austria)

    Objective: We here report on a novel SYNE1 mutation in an Austrian family extending the classical clinical phenotype in SYNE1 ataxia. Background: SYNE1 codes for…
  • 2016 International Congress

    Co-occurrence of two triplet repeat associated SCA mutations: A dilemma in clinical diagnosis, prognosis and genetic counselling and clinical significance

    A.K. Srivastava, S. Shkaya, M. Faruq, V. Suroliya, V. Goyal, K. Prasad (New Delhi, India)

    Objective: To report clinical and genetic outcomes of rare combinatiorial triplet repeat expansion(TRE), SCA mutations in patients. Background: The presence of more than one TRE-SCA…
  • 2016 International Congress

    Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

    M. Schinwelski, M. Krygier, J. Slawek, M. Zuk, M. Rydzanicz, A. Walczak, P. Stawinski, A. Konkel, M. Sildatke-Bauer, R. Ploski, J. Limon (Gdansk, Poland)

    Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…
  • 2016 International Congress

    Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: Slowly progressive recessive ataxia

    M. Renaud, C. Guissart, S. Ferdinandusse, D. Cheillan, O. Lagha-Boukbiza, M. Mallaret, J. Muller, C. Tranchant, M. Anheim, M. Koenig (Strasbourg cedex, France)

    Objective: Our objective was to report 3 patients with ataxia and unusually prolonged survival caused by missense mutations in the Zinc finger region of PEX10.…
  • 2016 International Congress

    Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree

    P. Bogdanova-Mihaylova, N. Austin, M.D. Alexander, L. Cassidy, S.M. Murphy, R.A. Walsh (Dublin, Ireland)

    Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…
  • 2016 International Congress

    A novel phenotype associated with GRN mutations: Spastic ataxia

    I. Faber, J.R.M. Prota, A.R.M. Martinez, B.S. Carvalho, Í.T. Lopes-Cendes, M.C. França Jr (Campinas, Brazil)

    Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…
  • 2016 International Congress

    CAG repeats number of ATXN7 in SCA7 patients and normal population in Japan

    Y. Adachi, R. Shimoyama (Matsue, Japan)

    Objective: Patients with spinocerebellar ataxia type 7 (SCA7) have progressive ataxia associated with pigmental macular degeneration, pyramidal and extrapyramidal signs and some of them have…
  • 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…
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