MDS Abstracts

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

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Articles tagged "Gait disorders: Genetics"

  • MDS Virtual Congress 2020

    Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation

    I. Singh, I. Ahmed, S. Shaykya, A. Srivastava (New Delhi, India)

    Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…
  • MDS Virtual Congress 2020

    Movement Disorders in the Plain People

    Z. Ammous (Topeka, IN, USA)

    Objective: Genomic discovery often occurs in large institutions, but the contribution of small, rural genetics clinics must not be overlooked. While rare, these rural genetics…
  • 2019 International Congress

    Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations

    M. Borsche, I. König, S. Delcambre, S. Petrucci, A. Balck, T. Gasser, N. Brüggemann, S. Pereira, K. Badanjak, K. Brockmann, E M. Valente, R. Youle, A. Grünewald, C. Klein (Lübeck, Germany)

    Objective: To discriminate affected PARK-Parkin and PARK-PINK1 mutation carriers from idiopathic Parkinson’s disease (PD) patients and healthy controls using serum IL-6 and mtDNA levels. Background:…
  • 2019 International Congress

    Identification of aberrant circulating miRNAs in Parkinson’s disease plasma samples

    L. Chen, J. Yang (Tianjin, China)

    Objective: To detect the aberrant expression of circulating miRNAs and explore thepotential early diagnostic biomarkers in patients with Parkinson’s disease (PD). Background: In the past…
  • 2019 International Congress

    Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification

    A. Kievit, L. Zutven, A. Boon (Rotterdam, Netherlands)

    Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…
  • 2019 International Congress

    Fine-mapping of SNCA variants in REM sleep behavior disorder identifies distinct associations

    L. Krohn, R. Wu, J. Ruskey, S. Laurent, L. Philstrom, I. Arnulf, M. Hu, Y. Dauvilliers, B. Hogl, A. Stefani, E. Holzknecht, C. Monaca, A. Beatriz, G. Plazzi, E. Antelmi, L. Ferini-Strambi, A. Heidbreder, V. Cochen, B. Mollenhauer, K. Sonka, M. Figorilli, F. Dijkstra, M. Viaene, W. Oertel, J. Gagnon, M. Nalls, C. Blauwendraat, A. Singleton, A. Desautels, J. Montplaisir, O. Ross, B. Boeve, N. Dupre, E. Fon, R. Postuma, G. Rouleau, Z. Gan-Or (Montreal, QC, Canada)

    Objective: a). Identify variants in the SNCA locus which affect risk for REM Sleep Behavior Disorder (RBD). b). Test variant effects on rate and type…
  • 2019 International Congress

    Clinicopathologic Characterization and Abnormal Autophagy of HDLS

    W. Tian, L. Cao, S. Chen (Shanghai, China)

    Objective: We aimed to investigate clinical and pathological characteristics in hereditary diffuse leukoencephalopathy with spheroids (HDLS) patients and explore the potential impact of colony-stimulating factor…
  • 2019 International Congress

    Role of APOE ε4 status and Sex on Somatosensory Integration and Dual-Task Cost in Parkinson’s disease

    D. Martini, R. Morris, G. Mcbarron, T. Madhyastha, T. Grabowski, SC. Hu, C. Zabetian, A. Hiller, K. Chung, J. Quinn, F. Horak (Portland, OR, USA)

    Objective: To determine whether ε4 status relates to impaired somatosensory integration deficits in males more than females in people with Parkinson’s disease (PwPD). Background: Previous…
  • 2019 International Congress

    BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson’s disease

    Y. Shen, J. Wang, K. Zhang (Nanjing, China)

    Objective: We aimed to explore effects of bone marrow stromal cell antigen‐1 (BST1) rs4698412 allelic variant on brain activation and associative clinical symptoms in Parkinson’s…
  • 2018 International Congress

    Evaluation of Balance in Hereditary Ataxias

    H. Teive, B. Zeigelboim, R. Santos, S. Dias, N. Mello, V. Fonseca (Cuitiba, Brazil)

    Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of…
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