MDS Abstracts

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

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  • 2017 International Congress

    Motor and Nonmotor clinical phenotype in LRRK2 Parkinson’s disease patients: a Case-control study

    L. Correia Guedes, R. Bouça, N. Gonçalves, T. Soares, D. Abreu, M. Fabbri, M. Coelho, M.M. Rosa, M. Quadri, T. Outeiro, C. Sampaio, V. Bonifati, J. Ferreira (Lisbon, Portugal)

    Objective: Our study aimed to characterize and compare the clinical phenotype of LRRK2-PD patients with PD patients with no identified mutations. Background: The clinical phenotype…
  • 2017 International Congress

    Kufor-Rakeb Syndrome due to a Novel ATP13A2 Mutation in two Chinese brothers

    E. Noch, N. Hellmers, C. Henchcliffe, H. Sarva (New York, NY, USA)

    Objective: To describe Kufor-Rakeb Syndrome (KRS) due to a novel ATP13A2 1459 C>T mutation in two Chinese siblings. Background: Kufor-Rakeb Syndrome is a rare autosomal…
  • 2017 International Congress

    Early-Onset Parkinson Disease with Hypocalcemia: Adult Presentation of 22q11.2 Deletion Syndrome

    F. Moreira, J. Lopes, M. Sousa, L. Pires, C. Januário (Coimbra, Portugal)

    Objective: Report a case of early-onset Parkinson Disease with hypocalcemia and mild dysmorphic features leading to diagnosis of 22q11.2 deletion syndrome Background: The 22q11.2 Deletion Syndrome is…
  • 2017 International Congress

    Are there genotype-phenotype correlations in Perrys syndrome?

    J. Panicker, M. Bonello, R. Ellis, A. Randall, L. Fratalia, S. Alusi (Liverpool, United Kingdom)

    Objective: To examine  genotype-phenotype correlations in a cohort of three patients with Perrys syndrome.  Background: Perrys syndrome is a rare cause of familial parkinsonism. Since the…
  • 2017 International Congress

    Pure ATXN10 repeat expansion causes Parkinson’s disease

    F. Jimenez Gil, K. McFarland, K. Lee, Y.-C. Tsai, C. Byrne, R. Gopi, N. Huang, J. Langston, T. Clark, T. Ashizawa, B. Schuele (Guadalajara, Jalisco, Mexico)

    Objective: Clinical and genetic characterization of a multigenerational family with spinocerebellar ataxia type 10 (SCA10) and parkinsonism. Background: Pentanucleotide repeat expansions of ATTCT in intron…
  • 2017 International Congress

    First Reported Case of Parkinsonism in a Patient with Argininosuccinate Lyase Deficiency

    K. Woodward, D. Bhatti, E. Rush (Omaha, NE, USA)

    Objective: The purpose of this case report is to detail the phenotype of parkinsonism encountered in a patient with Argininosuccinate Lyase Deficiency (ASLD) that has…
  • 2017 International Congress

    Early-Onset Parkinsonism and Short Stature in a Puerto Rican Kindred. Possible DJ1 deletion?

    K. Celis, J. Vance, A. Vinuela (Miami, FL, USA)

    Objective: We aim to identify and describe the clinical phenotype associated with a Puerto Rican family with early-onset PD and short stature.  Background: As few…
  • 2017 International Congress

    Behavioral and psychological symptoms in Parkinson’s disease with SWEDDs

    J. Ahn, H. Kim (Seoul, Republic of Korea)

    Objective: To assess behavioral and psychological symptoms in patients of Parkinson's disease with SWEDDs(PD-SWEDDs.. Background: Behavioral and psychological symptoms are often seen in patients with…
  • 2017 International Congress

    Capgras syndrome in advanced Parkinson disease

    C. Groth, A. Pusso, D. Huss, S. Sperling, B. Shah, M. Harrison, W.J. Elias, G.F. Wooten, M. Barrett (Charlottesville, VA, USA)

    Objective: The aims of this study were to investigate the frequency of Capgras syndrome in Parkinson's disease patients who have undergone Deep Brain Stimulation (DBS)…
  • 2017 International Congress

    Dopamine agonist therapy mediates relationship between psychomotor inhibition and behavioral impulsivity in Parkinson’s disease.

    T. Turner, J. Renfroe, V. Hinson (Charleston, SC, USA)

    Objective: Evaluate relationship between psychomotor inhibition and behavioral impulsivity in Parkinson’s disease (PD). Background: Impulse control disorders can be challenging iatrogenic effects of dopamine agonist…
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