MDS Abstracts

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

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Articles tagged "etc): Genetics"

  • 2016 International Congress

    De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions

    N.E. Mencacci, E.J. Kamsteeg, L. R'Bibo, D. Lynch, B. Balint, M. Willemsen, M. Adams, S. Wiethoff, J. Ng, E. Meyer, L. Veneziano, P. Giunti, D. Hughes, M. Carecchio, G. Zorzi, C. Barzaghi, B. Garavaglia, N. Nardocci, V. Salpietro, J. Hardy, A. Pittman, H. Houlden, M. Kurian, L. Vissers, N. Wood, K. Bhatia (Londond, United Kingdom)

    Objective: To identify the underlying genetic abnormality in three sporadic unrelated cases presenting with chorea and bilateral striatal abnormalities on cerebral MRI. Background: Chorea is…
  • 2016 International Congress

    Huntington disease phenocopies or misdiagnosis: A black South African cohort

    F.K. Baine, A. Krause (Johannesburg, South Africa)

    Objective: To investigate the occurrence of phenocopy mutations in a cohort of black South African individuals referred to the National Health Laboratory Service (NHLS) for…
  • 2016 International Congress

    Clinical and behavioral features in carriers of intermediate length alleles of HTT gene. A case series of Mexican population

    M.A. Ramírez-García, D.J. Dávila-Ortiz de Montellano, P. Yescas-Gómez, A. Ochoa-Morales, C. Boll, M.E. Alonso-Vilatela (Mexico City, Mexico)

    Objective: To describe clinical manifestations in carriers of intermediate alleles (IAs) of CAG trinucleotides in HTT gene of Mexican population. Background: Huntington's disease (HD) is…
  • 2016 International Congress

    Psychosis in Huntington’s disease

    J. Perez-Perez, S. Martinez-Horta, M. Carceller, J. Pagonabarraga, A. Horta, R. Fernandez-Bobabilla, J. Kulisevsky (Barcelona, Spain)

    Objective: To describe the characteristics and phenomenology of psychotic symptoms in a Spanish cohort of HD patients. Background: Neuropsychiatric features are characteristic symptoms in Huntington's…
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