MDS Abstracts

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

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Articles tagged "etc): Genetics"

  • 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…
  • 2016 International Congress

    ADCY5 screening in paediatric-onset hyperkinetic movement disorders: Report of three new Italian families

    M. Carecchio, N.E. Mencacci, G. Zorzi, F. Zibordi, C. Fusco, A. Iodice, L. Veneziano, C. Barzaghi, L. 'RBibo, N. Wood, B. Garavaglia, N. Nardocci (Milan, Italy)

    Objective: To report three new cases with pathogenic ADCY5 mutations and describe their clinical phenotype. Background: ADCY5 is a recently identified gene responsible for a…
  • 2016 International Congress

    Clinical course and treatment of 6 children with GNAO1 mutations causing a severe, life-threatening chorea

    A. Robichaux-Viehoever, A. Ananth, Y.M. Kim, A. Hanson-Kahn, R. Cox, G. Enns, J. Strober, M. Willing, B. Schlaggar, J. Bernstein, Y. Wu (San Francisco, CA, USA)

    Objective: We describe the clinical course of 6 patients with de novo GNAO1 mutations with severe chorea, developmental delay and hypotonia, but the absence of…
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