MDS Abstracts

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

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Articles tagged "Familial neurodegenerative diseases"

  • 2018 International Congress

    Studying genes involved in abnormalities of the basal ganglia and iron homeostasis using gene co-expression network analysis

    M. van der Weijden, M. Tijssen, D. Verbeek (Groningen, Netherlands)

    Objective: To unravel the disease mechanisms underlying neurodegeneration with brain iron accumulation (NBIA) and to identify potential novel disease genes. Background: NBIA is clinically and…
  • 2018 International Congress

    A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer’s disease

    A. Orlacchio, C. Montecchiani, R. Rumore, F. Gaudiello, M. Miele, C. Caltagirone, T. Kawarai (Rome, Italy)

    Objective: To perform a clinical and a genetic study in an Italian family with a complicated form of hereditary spastic paraplegia (HSP) and Alzheimer’s disease…
  • 2018 International Congress

    Analysis of secondary causes in Fahr’s syndrome and whole exome sequencing in Fahr disease from Northeast China and South Korean

    G. Shen, B. Jeon, G. Nan, S. Park (Changchun, China)

    Objective: In this study, patients with Fahr syndrome were analyzed for etiology, and genetic testing was performed for patients with Fahr disease from Northeast China…
  • 2018 International Congress

    Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia

    I. Cunha, A. Brás, J. Ribeiro, C. Januário (Coimbra, Portugal)

    Objective: To characterize the demographic, clinical and genetic features of HSP and to define the phenotypic spectrum and genotype-specific differences. Background: Hereditary spastic paraplegia (HSP)…
  • 2018 International Congress

    Primary familial brain calcification – The impact of calcifications on the development of motor symptoms

    D. Alvarez-Fischer, C. Schiemenz, G. Mahlke, A. Keller, A. Westenberger, J. Erdmann, Z. Aherrahrou, C. Klein (Lübeck, Germany)

    Objective: The aim of the present study was to investigate whether the nigro-striatal system in a genetic mouse model of primary familial brain calcification (PFBC)…
  • 2018 International Congress

    A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration

    T. Klopstock, F. Tricta, L. Neumayr, I. Karin, G. Zorzi, C. Fradette, T. Kmieć, B. Buechner, H. Steele, R. Horvath, P. Chinnery, A. Basu, C. Küpper, C. Neuhofer, P. Dušek, F. Zhao, F. Zibordi, N. Nardocci, C. Aguilar, S. Hayflick, M. Spino, A. Blamire, P. Hogarth, E. Vichinsky (Munich, Germany)

    Objective: To investigate whether treatment with the iron-chelating drug deferiprone (DFP) has benefit in patients with pantothenate kinase-associated neurodegeneration (PKAN), the most common form of…
  • 2018 International Congress

    Deep brain stimulation for monogenic Parkinson’s disease: A systematic review

    T. Kuusimäki, J. Korpela, E. Pekkonen, M. Martikainen, A. Antonini, V. Kaasinen (Turku, Finland)

    Objective: The aim was to systematically investigate the outcome of deep brain stimulation (DBS) in genetic Parkinson’s disease (PD) compared to the patients with documented…
  • 2018 International Congress

    Intensive speech rehabilitation in degenerative ataxias improves intelligility

    A. Vogel, N. Rommel, M. Synofzik (Melbourne, Australia)

    Objective: To test the efficacy and tolerability of intensive home based treatment for dysarthria in ataxia Background: The loss of the ability to speak is…
  • 2018 International Congress

    Motor speech and swallowing phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

    A. Vogel, N. Rommel, A. Oettinger, L. Stoll, E-M. Kraus, C. Gagnon, P. Krumm, M. Horger, D. Timmann, E. Storey, L. Schöls, M. Synofzik (Melbourne, Australia)

    Objective: To provide a comprehensive quantitative and qualitative characterization of speech and swallowing function in ARSACS to support diagnostics, provide insights into the underlying pathology,…
  • 2018 International Congress

    Postural Sway Complexity as a Measure of Motor Functionality in Fragile X Premutation Carriers

    C. O'Keeffe, L. Taboada, N. Feerick, L. Gallagher, T. Lynch, R. Reilly (Dublin, Ireland)

    Objective: To assess changes in motor functionality of FMR1 premutation carriers at risk of developing Fragile X Associated Tremor/Ataxia Syndrome(FXTAS), through traditional and complexity-based measures…
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