MDS Abstracts

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

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Articles tagged "Parkin"

  • 2018 International Congress

    Clinical evaluation of genetic changes of polymerase chain reaction in patients with PD at early stage

    M. Salokhiddinov (Tashkent, Uzbekistan)

    Objective: To assess the clinical feature of genetic changes in PARK1 (α-synuclein) and PARK2 with the help of PCR in patients with Parkinson’s disease and…
  • 2018 International Congress

    Novel population-specific mutationsin PINK1 and Parkin genes from India

    A. Kishore, M. Sturm, A. Asok, C. Schulte, D. KP, S. Krishnan, O. Riess, M. Sharma (Trivandrum, India)

    Objective: To look for novel and population-specific genes for PD in 50 Indian families with Parkinson's disease Background: Till date, 138 mutations in PINK1 and…
  • 2018 International Congress

    Molecular-genetic nature of Parkinson’s disease in the East European cohort

    A. Ivashynka, S. Likhachev (Minsk, Belarus)

    Objective: Genetic testing of the Parkin gene in patients with Parkinson's Disease (PD) in the East European cohort from Belarus. Background: The diagnosis of Juvenile…
  • 2018 International Congress

    Diagnostic utility of a targeted resequencing technique of next generation sequencing in detecting copy number changes in PARK2

    NY. Kim, SK. Hong, YE. Kim, HI. Ma, YJ. Kim (Anyang, Republic of Korea)

    Objective: We investigate feasibility of Next Generation Sequencing (NGS) targeted sequencing technique using Ampliseq® technology by Ion PGM® to detect copy number variation mutation in…
  • 2018 International Congress

    The Parkinson’s Families Project: A family-based study of early onset and familial Parkinson’s disease

    M. Tan, A. Costantini, S. Lubbe, E. Brown, J. Bras, N. Wood, A. Schapira, J. Hardy, H. Morris (London, United Kingdom)

    Objective: The aim of this study is to identify new genetic variants that cause or predispose to Parkinson’s disease (PD). Our secondary aim is to…
  • 2018 International Congress

    Retinal and choroidal changes in autosomal recessive PD are similar to idiopathic PD

    A. Colpak, A. Agin, G. Yalcin-Cakmakli, S. Kadayifcilar, A. Bilgic, B. Eldem, B. Elibol (Ankara, Turkey)

    Objective: Our aim is to evaluate the structural changes in retina and choroid by Optical Coherence Tomography (OCT) in idiopathic Parkinson's disease (PD) and common…
  • 2018 International Congress

    Identification of putative serum biomarkers for parkin-related Parkinson’s disease by metabolome analysis

    T. Ogawa, T. Hatano, A. Okuzumi, S. Ueno, A. Mori, Y. Oji, M. Fujimaki, T. Koinuma, S. Saiki, N. Hattori (Tokyo, Japan)

    Objective: Parkin is known as the causative gene of autosomal recessive familial Parkinson’s disease (parkin-PD). It remains unclear how parkin dysfunction associates with the dopaminergic…
  • 2018 International Congress

    Characterization of the preclinical model parkinQ311X

    A. Ciammola, M. Regoni, D. Mercatelli, L. Croci, G. Serratto, S. Fasano, L. Murru, S. Novello, M. Pingue, V. Silani, G. Consalez, F. Valtorta, M. Passafaro, M. Morari, J. Sassone (Milan, Italy)

    Objective: To characterize the preclinical model parkinQ311X. Because the PARK2-associated disease in humans is characterized by juvenile onset and slow progression, in order to clarify…
  • 2018 International Congress

    Nigral stimulation for the treatment of refractory gait disturbances in Parkinson’s disease

    M. Carmona-Abellán, D. Moreno, M. Alegre, J. Guridi, R. Luquin (Pamplona, Spain)

    Objective: Evaluate the effect of SNr stimulation on freezing of gait and analyse changes in local field potentials. We describe an early-onset Parkinson´s disease patient…
  • 2018 International Congress

    Disrupted Amplitude of Low-frequency Fluctuations and Causal Connectivity in Parkinson’s Disease with Apathy

    Y. Shen, J. Li, Y. Yuan, X. Wang, M. Wang, J. Wang, H. Zhang, L. Zhu, K. Zhang (Nanjing, China)

    Objective: We aimed to explore associated neural substrates changes in Parkinson’s disease (PD) with apathy via amplitude of low-frequency fluctuations (ALFF) and Granger Causality Analysis…
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