MDS Abstracts

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

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  • 2024 International Congress

    Contribution to Efficacy by Active Metabolites of Suvecaltamide in a Preclinical Rat Model of Essential Tremor

    N. Shanks, S. Markova, R. Mukkavilli, L. Tan, M. Lee, E. Brigham (Palo Alto, USA)

    Objective: Present the pharmacokinetic/pharmacodynamic (PK/PD) relationship and contribution to anti-tremor efficacy for suvecaltamide and its active metabolites (JZZ05000034=M01, JZZ05000035=M02) in a harmaline-induced rat model of…
  • 2024 International Congress

    Effects of Loading, Tapping Performance, and Ballistic Movements on Postural Tremor Features in Patients with Essential Tremor

    D. Birreci, D. Costa, L. Angelini, A. Cannavacciuolo, M. Passaretti, A. Martini, M. de Riggi, G. Paparella, M. Bologna (Rome, Italy)

    Objective: To comprehensively evaluate the effects of loading, tapping performance, and ballistic movements on major tremor features in patients with essential tremor (ET). Background: In…
  • 2024 International Congress

    Combining EMG and Simulation-Based Biomarkers to Enhance Parkinson’s Resting Tremor Diagnosis

    JRV. Rey Vilches, ST. Tolu (Kongens Lyngby, Denmark)

    Objective: To develop a diagnostic tool for Parkinson's Disease (PD) resting tremor using surface Electromyography (sEMG) data and musculoskeletal simulations to identify key biomarkers. Background:…
  • 2024 International Congress

    ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum

    M. Ben Hafsa, H. Benrhouma, T. Ben Younes, R. Maroofian, H. Klaa, H. Houlden, I. Kraoua (Tunis, Tunisia)

    Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…
  • 2024 International Congress

    A Novel SLC9A1 Mutation Associated with Cerebellar Ataxia and Sensorineural Hearing Loss

    S. Dharmadhikari, Y. Kianirad (Chicago, USA)

    Objective: To report a novel genetic mutation in the SLC9A1 gene presenting with childhood onset ataxia and sensorineural hearing loss. Background: Lichtenstein-Knorr syndrome is a…
  • 2024 International Congress

    Candidate biomarkers of EV-microRNA in detecting REM sleep behavior disorder and Parkinson’s disease

    Y. Li, J. Liu, L. Wu (shanghai, China)

    Objective: Accessible and reliable biomarkers for early diagnosis of PD and iRBD are urgently needed to identify candidate therapeutic targets and to monitor disease progression…
  • 2024 International Congress

    LRRK2 and GBA Founder Mutations and their Interactions in Parkinson’s Disease

    M. Kmiecik, G. Riboldi, R. Schneider, K. Stagaman, T. Filshtein Sonmez, A. Guan, M. Wetzel, P. Fontanillas, M. Holmes, S. Aslibekyan, L. Norcliffe-Kaufmann (Sunnyvale, USA)

    Objective: To evaluate the symptoms of Parkinson’s disease (PD) and time to diagnosis in single and dual carriers of LRRK2 G2019S and GBA N370S. Background:…
  • 2024 International Congress

    Parkinson’s Families Project: A UK-Wide Study of Early Onset and Familial Parkinson’s Disease

    R. Real, Z-H. Fang, C. Towns, T. Schmaderer, S. Jasaityte, M. Tan, M. Pollard, L. Lange, R. Tilney, A. Singleton, C. Blauwendraat, C. Klein, H. Morris (London, United Kingdom)

    Objective: The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). Background: Rare variants…
  • 2024 International Congress

    Artificial intelligence: a potential predictor of GBA1-mutated genotype in Parkinson’s Disease patients?

    G. Di Rauso, A. Ghibellini, S. Grisanti, F. Cavallieri, V. Fioravanti, E. Monfrini, G. Toschi, G. Portaro, J. Rossi, R. Sabadini, L. Gherardini, C. Lucchi, G. Biagini, L. Bononi, M. Gabbrielli, A. Di Fonzo, F. Valzania (Reggio Emilia, Italy)

    Objective: To assess whether artificial intelligence could predict GBA1-mutated genotype in Parkinson’s Disease (GBA1-PD) patients according to the different impact of significant clinical features. Background:…
  • 2024 International Congress

    the role of metabotropic glutamate receptors type 3 and 5 in parkinson’s disease: analysis of grm3 and grm5 genbe variants.

    M. Alborghetti, E. Bianchini, D. Rinaldi, I. de Bartolo, L. Di Menna, G. Battaglia, V. Bruno, T. Esposito, M. Borro, M. Simmaco, F. Pontieri, A. Berardelli, F. Nicoletti (Rome, Italy)

    Objective: The aim of the study was to examine the association between polymorphic variants of GRM3 and GRM5 and Parkinson’s disease (PD) and motor and…
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