MDS Abstracts

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

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Articles tagged "Calcium"

  • 2024 International Congress

    Non motor symptoms assessment in Primary Familial Brain Calcification, survey on a cohort

    G. Bonato, M. Carecchio (Padova, Italy)

    Objective: Defining the burden of non-motor symptoms in Primary Familial Brain Calcification Background: PFBC is a rare neurodegenerative disorder of adulthood characterized by calcium deposition…
  • 2024 International Congress

    The functional and lipidome signature of GBA1 mutant dopaminergic neurons

    G. Uras, S. Lucas-Del-Pozo, F. Fierli, S. Koletsi, V. Lentini, P. Caboni, C. Manis, D. Di Lisa, A. Andolfi, L. Pastorino, A. Schapira (London, United Kingdom)

    Objective: The work presented here aims to link the lipidome changes leading to functional defects, and eventual cell death, in GBA1 mutant dopaminergic neurons derived…
  • 2024 International Congress

    LRRK2 I1371V Mutation: Unraveling Pathogenic Mechanisms in Dopaminergic Neurons via Membrane Fluidity & Calcium Dysregulation using PD Patient iPSCs

    I. Datta, S. Jagtap, V. Holla, N. Kamble, R. Yadav, P. Pal (Bengaluru, India)

    Objective: To estimate pathogenicity of LRRK2 I1371V mutation in PD patient iPSC-derived DA-neurons & assess underlying disease mechanisms involving membrane fluidity, Ca2+ dysregulation, & Rab8A/Rab10…
  • 2024 International Congress

    iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening

    B. Reddy, A. Gerutshang, R. Roy, R. Banerjee, S. Chowdhury, H. Kumar, S. Chattarji (Kolkata, India)

    Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…
  • 2024 International Congress

    A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification

    X. Chen, Y. Shi, F. Fu, L. Wang, D. Yang, X. Wang, C. Ying, H. Wang, Z. Lin, H. Wang, F. Zhang, X. Zheng, Y. Guo, Y. Wang, Y. Zeng, M. Zhao, Y. Chen, J. Li, H. Xia, J. Chen, B. Wang, S. Wu, F. Xie, J. Feng, Z. Cen, W. Luo (Hangzhou, China)

    Objective: To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC).To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC). Background:…
  • 2024 International Congress

    Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification

    B. Snijders, M. Peters, P. de Jong, B. Lith, E. Brilstra, Y. Ruigrok, V. Schepers, E. van Valen, M. Emmelot-Vonk, H. Koek (Utrecht, Netherlands)

    Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome. Background: PFBC, also known as Fahr’s disease,…
  • 2024 International Congress

    Miniscope-based neural circuit profiling in freely behaving animals for preclinical therapeutic assessment

    S. Huang, D. Cheng, A. Simmonet, E. Noe, E. Bezard, J. Zapata, J. Nassi (Mountain View, USA)

    Objective: To advance translational research by revealing detailed relationships between neural circuit activity and behavioural symptoms in preclinical models Background: Conventional preclinical tests for CNS…
  • 2023 International Congress

    PFBC and dystonia: description of a cohort and peculiar cases

    G. Bonato, S. Andretta, C. Bertolin, L. Salviati, M. Carecchio (Padova, Italy)

    Objective: To describe dystonia in a PFBC cohort Background: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by calcium deposition in basal…
  • 2023 International Congress

    Tongue fasciculations and numbness: A case of calcifying pseudoneoplasm

    S. Hudaib, N. Stubbs, L. Simon, V. Blake, E. Nduom, C. Branson (Atlanta, USA)

    Objective: To describe a 61-year-old female who presents with abnormal tongue movement found to have right frontoparietal calcifying pseudoneoplasm of the neuraxis (CAPNON). Background: CAPNON…
  • 2023 International Congress

    Representation of movement repertoire in subthalamic neural circuits using a markerless 3D behavioral tracking system.

    JH. Shin, HY. Jeon, B. Jin, SM. Lee, JH. Kim, JS. Yook, JH. Kim, B. Jeon (Seoul, Republic of Korea)

    Objective: This study aimed to investigate the spatiotemporal encoding of neurons in the subthalamic nucleus using a mouse model. Background: The subthalamic nucleus is a…
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