MDS Abstracts

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

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Articles tagged "Multiple system atrophy(MSA): Genetics"

  • 2019 International Congress

    Unraveling biological processes implicated in MSA and PD by transcriptomic analysis

    A. Perez-Soriano, M. Arnal, D. Giraldo, M. Fernandez, T. Botta-Orfila, Y. Compta, R. Fernández-Santiago, M. Ezquerra, D. Tartaglia, MJ. Martí (Barcelona, Spain)

    Objective: To find differential biological processes between synucleinopathies (MSA and PD). Background: Multiple system atrophy (MSA) is an oligodendroglial sinucleinopathy that is often misdiagnosed as…
  • 2018 International Congress

    Apolipoprotein E and multiple system atrophy

    K. Ogaki, Y. Martens, M. Heckman, S. Koga, L. Labbé, O. Lorenzo-Betancor, A. Wernick, R. Walton, A. Soto, E. Vargas, H. Nielsen, S. Fujioka, T. Kanekiyo, R. Uitti, J. van Gerpen, W. Cheshire, Z. Wszolek, P. Low, W. Singer, N. Hattori, D. Dickson, G. Bu, O. Ross (Tokyo, Japan)

    Objective: This study evaluated genetic associations of Apolipoprotein E alleles with risk of multiple system atrophy (MSA) and α-synuclein pathology, and also examined whether apolipoprotein…
  • 2018 International Congress

    Determining the effect of the HNMT, STK39 and NMD3 polymorphisms on the incidence of Parkinson’s disease, amyotrophic lateral sclerosis and multiple system atrophy in Chinese populations

    Y.P. Chen, B. Cao, R.W. Ou, Q.Q. Wei, X.P. Chen, B. Zhao, Y. Wu, W. Song, H.F. Shang (Chengdu, People’s Republic of China)

    Objective: To investigate associations between 3 variants (HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896) and PD, multiple system atrophy (MSA) as well as amyotrophic lateral…
  • 2018 International Congress

    Association analysis of miRNA-linked variants with Parkinson’s disease and multiple system atrophy in a large Chinese population

    X.J. Gu, Y.P. Chen, B. Cao, R.W. Ou, Q.Q. Wei, B. Zhao, Y. Wu, W. Song, H.F. Shang (Chengdu, People’s Republic of China)

    Objective: To explore the relationship between two miRNA-linked variants (SPPLB rs1128402 and PDXK rs2070535) and two neurodegenerative diseases (PD and MSA) in a large Chinese…
  • 2017 International Congress

    Mutational analysis of COQ2 in Chinese patients with multiple-system atrophy

    J. Zhang, Y. Hao, Y. Chen, M. Ding, X. Zhang, W. Gu (Beijing, China)

    Objective: To investigate the involvement of COQ2 variants in Chinese sporadic cases with multiple-system atrophy. Background: Multiple-system atrophy (MSA) is a rapidly progressive neurodegenerative disease…
  • 2017 International Congress

    Serum Mir-30c as a Potential Biomarker to Discriminate MSA from PD Patients: A Pilot Study.

    A. Vallelunga, M. Sessa, D. Giovanna, M. Picillo, P. Barone, M.T. Pellecchia (Salerno, Italy)

    Objective: In this pilot study we evaluated  serum mir-30c levels in MSA and  PD patients, to assess if mir-30c can be useful to distinguish these…
  • 2017 International Congress

    Association analyses of three susceptibility loci for Alzheimer’s disease in Parkinson’s disease, amyotrophic lateral sclerosis, and multiple system atrophy

    Y. Chen, R. Ou, X. Chen, B. Cao, Q. Wei, B. Zhao, Y. Wu, H. Shang (Chengdu, China)

    Objective: Considering the overlapping of clinical manifestation and pathologic characteristics of Alzheimer’s disease (AD) and Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple system…
  • 2016 International Congress

    A novel haplotype in LRRK2 is associated with risk for multiple system atrophy in the Korean population

    L.L. Farrell, E. Scott, H.J. Kim, I. Guella, S. Bortnick, E.M. Nosova, B. Jeon, C.W. Sin, H. Park, S.S. Park, M.J. Farrer (Vancouver, Cameroon)

    Objective: To (1) validate past results by investigating the role of LRRK2 exonic variants in an equivalent Korean series with MSA and (2) identify novel…
  • 2016 International Congress

    The Catalan multiple system atrophy-registry (CMSAR)

    F. Antonelli, E. Muñoz, J. Pagonabarraga, J. Hernández-Vara, A. Bayes, O. de Fabregues, F. Valldeoriola, E. Tolosa, Y. Compta, M. Ezquerra, R. Fernandez, M. Calopa, S. Jauma, M. Pujol, V. Puente, A. Cámara, L. Planellas, M.J. Martí (Barcelona, Spain)

    Objective: To collect comprehensive and standardized clinical data and to create a repository of biological samples and cell lines from probable and possible MSA patients…
  • 2016 International Congress

    A novel phenotype of amyloid precursor protein (APP) mutation presenting with dementia, and symptoms of both progressive supranulcear palsy (PSP) and multisystem atrophy (MSA)

    J.E. Staisch, M. Padmanaban, J. Mastrianni, T. Xie (Chicago, IL, USA)

    Objective: To describe the novel phenotype of a patient with an amyloid precursur protein (APP) mutation presenting with dementia and symptoms of both progressive supranulcear…
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