MDS Abstracts

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

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Articles tagged "Gait disorders: Genetics"

  • 2024 International Congress

    PMM2 mutation

    H. Teive, J. Duarte, LE. de Farias, S. Raskin, F. Tensini, D. Amarante (Curitiba, Brazil)

    Objective: describe glycosylation type 1A PMM2 mutation presented as motor development regression and cognitive impairment proving to be a disease that should’ve been detected precociously.…
  • 2023 International Congress

    Overlapping Pathogenetic Findings in Developmental Coordination Disorder (DCD), Ataxia, Dystonia and Myoclonus: is DCD part of a Movement Disorder Spectrum?

    M. Garofalo, F. Vansenne, D. Sival, D. Verbeek (Groningen, Netherlands)

    Objective: To explore the underlying pathogenetic mechanisms of Developmental Coordination Disorder (DCD) and compare these with findings in ataxia, dystonia and myoclonus. Background: DCD is…
  • 2023 International Congress

    Atypical progression of motor symptoms in Facio-Scapulo-Humeral Dystrophy: clinical worsening or overlap?

    D. Calisi, M. de Rosa, M. Russo, A. Thomas, M. Onofrj, S. Sensi (Chieti, Italy)

    Objective: This case highlights the importance of considering possible overlaps with PSP and other neurodegenerative diseases. Background: Facio-Scapulo-Humeral Dystrophy is a common muscular dystrophy featuring…
  • 2023 International Congress

    Hereditary spastic paraplegia type 4 (SPG4): an international multicenter clinical and genetic study

    A. Orlacchio, E. Panza, R. Rumore, C. Montecchiani, F. Gaudiello, M. Stasi, A. Stigliano, M. Miele, R. Massa, M. Bassi, A. Tessa, F. Santorelli, A. Meyyazhagan, P. St George-Hyslop, J. Pedroso, O. Barsottini, H. Teive, R. Miyamoto, T. Kawarai (Rome, Italy)

    Objective: To describe the epidemiological, clinical, and genetic features of patients affected by hereditary spastic paraplegia (HSP) in an international cohort of affected individuals.To describe…
  • 2023 International Congress

    Characterization of gait variability of early Parkinson’s disease and multiple system atrophy

    M. Jecmenica Lukic, A. Tomic, I. Stankovic, V. Markovic, N. Kresojevic, N. Dragasevic, M. Svetel, I. Petrovic, S. Radovanovic, V. Kostic (Belgrade, Serbia)

    Objective: to determine the potential differences in gait characteristics between PD-GBA carriers and non-carriers (idiopathic Parkinson’s disease (iPD)), both mutually and in relation to MSA-P.…
  • 2023 International Congress

    A juvenile onset Sandhoff disease case caused by hemizygous mutations of HEXB

    JH. Yin (Beijing, China)

    Objective: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed…
  • 2023 International Congress

    Gene-environment interactions for Parkinson’s disease

    R. Torricelli, A. Reynoso, B. Jacobs, J. Shi, S. Aslibekyan, L. Kaufmann, A. Noyce, K. Heilbron (London, United Kingdom)

    Objective: The aim of this study was to test for interactions between PD-related genetic and phenotypic traits in the 23andMe, Inc. research cohort. Background: Parkinson’s…
  • 2023 International Congress

    Outcomes From Genetic Testing in a UK Movement Disorder Clinic

    H. Morrison, L. Leemet, I. Berry, M. Boca (Bristol, United Kingdom)

    Objective: The reported yield from next generation sequencing (NGS) in Movement Disorder clinics is 11.3 – 22% [1,2]. We aimed to determine current practice and yield…
  • 2023 International Congress

    Movement disorders spectrum in CTNNB1-related neurodevelopmental disorders

    G. Garone, M. Grasso, L. Travaglini, MC. Digilio, A. Capuano, F. Nicita, G. Della Bella, D. Diodato, L. Chioma, A. Mandarino, L. Sinibaldi (Rome, Italy)

    Objective: To describe the phenomenology and clinical course of movement disorders in CTNNB1-related neurodevelopmental disorder (CTNNB1-NDD). Background: CTNNB1-NDD is a rare neurogenetic condition caused by…
  • 2023 International Congress

    Adult onset neuronal Intranuclear Inclusion Disease (NIID) which initially presented with gait imbalance and fall

    E. Oh, S. Lee (Daejeon, Republic of Korea)

    Objective: To report a rare case of adult onset neuronal intranuclear inclusion disease (NIID) presented with gait disturbance and fall, and finally confirmed with skin…
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