MDS Abstracts

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

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Articles tagged "Ataxia: Clinical features"

  • 2018 International Congress

    Non-motor symptoms in Spinocerebellar ataxia, multiple system atrophy and Idiopathic late-onset cerebellar ataxia

    YM. Park, MJ. Kim, SB. Koh (Seoul, Republic of Korea)

    Objective: Recent studies suggest that non-motor symptoms (NMS) including urinary disorders, erectile dysfunction in men, orthostatic hypotension, sleep disruption, constipation, depression and anxiety are common…
  • 2018 International Congress

    Treatment with docosahexaenoic acid in Spinocerebellar Ataxia 38

    D. Perani, L. Orsi, C. Costanzi, M. Ferrero, A. Zoppo, F. Tempia, D. Caruso, M. Grassi, A. Padovani, A. Brusco, B. Borroni (Brescia, Italy)

    Objective: To evaluate the safety and efficacy of docosahexaenoic acid supplementation in patients with spinocerebellar ataxia 38 (SCA 38), on clinical symptoms and changes of…
  • 2018 International Congress

    Acute Stroke in Middle Cerebellar Peduncle in a Patient with FXTAS

    A. Fraint, D. Hall, R. Dafer (Chicago, IL, USA)

    Objective: Report a case of Fragile X associated Tremor/Ataxia Syndrome (FXTAS) with acute middle cerebellar peduncle (MCP) infarction, and highlight the potential susceptibility of the…
  • 2018 International Congress

    Clinical characteristics of a family harbouring a novel CCDC88C mutation (SCA40)

    W. Nachbauer, E. Indelicato, A. Eigentler, S. Boesch (Innsbruck, Austria)

    Objective: We here report on clinical features and course of disease in a novel CCDC88C mutation causing spinocerebellar ataxia type 40 (SCA40). Background: SCA40 is…
  • 2018 International Congress

    Urinary symptoms and Urodynamic findings in patients with SCAs and DRPLA

    M. Jang, A. Kim, B. Jeon, H. Kim (Jeollabuk-do, Republic of Korea)

    Objective: To investigate the lower urinary tract symptoms (LUTS) and findings of the urodynamic study (UDS) in patients with spinocerebellar ataxia (SCA) and dentatorubral pallidoluysian…
  • 2018 International Congress

    Clinical and mutation spectrum of Ataxia with oculomotor apraxia-2: An Indian perspective

    S. Shakya, M. Faruq, A. Srivastava, I. Singh, A. Garg, R. Rajan, V. Goyal (New Delhi, India)

    Objective: To report clinical and mutation spectrum of AOA2 in Indian population Background: The Autosomal Recessive Cerebellar Ataxias (ARCAs) are less explored in Indian population.…
  • 2018 International Congress

    Cerebrotendinous Xanthomatosis: A Rare Lipid Storage Disease

    H. Hanagasi, G. Yunisova, B. Bilgic, O. Dogu, H. Kaleagasi, Z. Tufekcioglu, E. Lohmann, H. Gurvit, M. Emre (Istanbul, Turkey)

    Objective: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease. It is caused by the deficiency of mitochondrial enzyme sterol 27-hydroxylase due to…
  • 2018 International Congress

    Comorbid Pediatric Early Onset Ataxia and Dystonia – Is the Cerebellum Involved?

    D. Sival, M. Tijssen, D. Verbeek (Groningen, Netherlands)

    Objective: In children with Early Onset Ataxia (EOA), we aimed to determine the prevalence of comorbid dystonia and to explore the pathogenesis by the shared…
  • 2018 International Congress

    Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients

    G. Coarelli, R. Schule, B. vande Warrenburg, P. de Jonghe, C. Ewenczyk, A. Martinuzzi, M. Synofzik, E. Hamer, J. Baets, M. Anheim, L. Schöls, T. Deconinck, B. Fontaine, T. Klockgether, MG. D'Angelo, ML. Monin, P. Charles, MT. Bassi, T. Klopstock, E. Ollagnon-Roman, C. Kamm, M. Papin, CS. Davoine, G. Banneau, S. Tezenasdu Montcel, D. Seilhean, A. Brice, C. Duyckaerts, G. Stevanin, A. Durr (Paris, France)

    Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…
  • 2018 International Congress

    Muscle Ultrasound Comparison Between Early And Intermediate Onset Friedreich’s Ataxia

    R. Verbeek, A. Waalkens, M. Kuiper, C. Verschuuren-Bemelmans, J. vd Hoeven, J. de Vries, J. van Gaalen, M. Willemsen, H. Kremer, D. Sival (Groningen, Netherlands)

    Objective: Background: Early-onset Friedreich’s Ataxia (FA) concerns a classic pediatric phenotype (p-FA, starting before 18 years of age), characterized by relentlessly progressive ataxia and (cardio)myopathy.…
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