MDS Abstracts

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

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Articles tagged "Chorea (also see specific diagnoses, Huntingtons disease, etc): Genetics"

  • 2018 International Congress

    A unique case of DAT positive Parkinson’s disease along with a mutable Huntington’s gene

    P. Prakash, S. Baser, M. Flaherty, T. Leichliter (Pittsburgh, PA, USA)

    Objective: The aim of this abstract is to report a unique case of DAT positive Parkinson’s disease with a mutable Huntington’s gene. Background: Huntington’s disease…
  • 2018 International Congress

    Generalized chorea in a patient with isolated leukocytosis and JAK2V617F mutation: A case report

    S. Bette, H. Moore, C. Singer (Miami, FL, USA)

    Objective: To describe late-onset generalized chorea in a patient found to have the JAK2V617F mutation without polycythemia vera. Background: Polycythemia vera (PV) is well-known to…
  • 2018 International Congress

    Benign hereditary chorea with nocturnal dyskinesias

    A. Mook, C. Kilbane (Cleveland, OH, USA)

    Objective: To describe a case of NKX2-1 mutation presenting with nocturnal hyperkinetic movements. Background: NKX-2-1 mutation is associated with benign hereditary chorea, respiratory distress in…
  • 2018 International Congress

    Chorea and Ataxia as Manifestations of Xeroderma Pigmentosum: A Case Report

    A. Jocson, K. Ngo, D. Togasaki, B. Fogel (Los Angeles, CA, USA)

    Objective: To report a case of a 51-year-old woman with recurrent basal cell carcinoma, severe photosensitivity, and progressive chorea and ataxia caused by xeroderma pigmentosum…
  • 2018 International Congress

    Generalized dystonia and chorea with family history: Clinical case

    R. Varela, R. Araújo, M. Sousa, I. Alonso, A. Morgadinho, I. Fineza (Coimbra, Portugal)

    Objective: This clinical case intends to highlight the in expansion genotypic base of the genetically undefined benign hereditary chorea, where de adenylate cyclase 5 gene…
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