Mov Disord Vol 31, Suppl 2 Archives - Page 134 of 207 - MDS Abstracts

2016 International Congress
Testing feasibility and utility of remote data capture technology to assess Parkinson’s disease
J. Carter, N. Hellmers, A. Hanineva, C. Henchcliffe (New York, NY, USA)
Objective: To test feasibility and utility of home-based video-recording uploaded from a mobile device app to a cloud-based storage platform, in order to quantitate motor…
2016 International Congress
Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea
H.J. Yang, J.M. Lee, J.H. Kwon, S.T. Lee, H.J. Kim, B. Jeon (Ulsan, Korea)
Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…
2016 International Congress
Mutational analysis of GNAL gene in isolated dystonia patients from Spain
P. Gómez-Garre, I. Huertas-Fernández, M.T. Cáceres-Redondo, A. Alonso-Canovas, I. Bernal-Bernal, A. Blanco-Ollero, M. Bonilla-Toribio, J.A. Burguera, M. Carballo, F. Carrillo, M.J. Catalán-Alonso, F. Escamilla-Sevilla, R. Espinosa-Rosso, M.C. Fernández-Moreno, J. García-Caldentey, J.M. García-Moreno, S. Giacometti-Silveira, J. Gutiérrez-García, S. Jesús-Maestre, E. López-Valdés, J.C. Martínez-Castrillo, M.P. Medialdea-Natera, C. Méndez-Lucena, A. Mínguez-Castellanos, M. Moya, J.J. Ochoa-Sepúlveda, T. Ojea, N. Rodríguez, I. Rubio-Agusti, M. Sillero-Sánchez, J. del Val, L. Vargas-González, P. Mir (Seville, Spain)
Objective: To study the frequency and spectrum of GNAL genetic variations in a large population of isolated dystonia (DT) patients from Spain. Background: GNAL encodes…
2016 International Congress
Roles of combined functional catechol-o-methyltransferase genotypes in Chinese Parkinson’s disease: A cross-sectional survey
Y. Qian, X. Yang, S. Xu, J. Liu, Q. Xiao (Shanghai, People's Republic of China)
Objective: To investigate the association of the most common functional catechol-O-methyltransferase (COMT) gene haplotypes with risk to develop of Parkinson's disease (PD) and the association…
2016 International Congress
The role of non-steroidal anti-inflammatory use in symptomatic and asymptomatic LRRK2 G2019S mutation carriers
K.A. Wyman-Chick, M.J. Barrett, S.A. Sperling, C.A. Manning (Charlottesville, VA, USA)
Objective: The purpose of the current study is to determine if non-steroidal anti-inflammatory drugs (NSAIDs) reduce the risk of Parkinson's disease (PD) among LRRK2 G2019S…
2016 International Congress
Oligomeric alpha-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson’s disease
A.K. Emelyanov, G.V. Baydakova, P.A. Andoskin, M.A. Nikolaev, K.A. Senkevich, I.V. Milyukhina, A.F. Yakimovskii, A.A. Timofeeva, E.Y. Fedotova, E.P. Nuzhnyi, S.N. Illarioshkin, E.Y. Zakharova, S.N. Pchelina (Saint-Petersburg, Russia)
Objective: To evaluate alterations in the phosphorylated, oligomeric alpha-synuclein and GBA activity levels in plasma from patients with sporadic Parkinson's disease (sPD), PD patients with…
2016 International Congress
Interest in genetic testing in Parkinson’s disease patients with deep brain stimulation
G. Pal, E. Tam, R. Bhavsar, C. Timms, L. Verhagen, D. Hall, K. Marder (Chicago, IL, USA)
Objective: To determine interest in genetic testing in Parkinson's disease (PD) patients with deep brain stimulation (DBS). Background: Approximately 27% of early-onset PD patients with…
2016 International Congress
Clinical profile of Wilson’s disease at Yangon General Hospital, Myanmar
S.M.M. Aye, K.M.P.P. Kyaw, Z. Myint Shwe, O. Ohnmar, Y.M. Aye, W.M. Thit (Yangon, Myanmar)
Objective: To evaluate clinical, biochemical and imaging profile of patients with Wilson's Disease (WD). Background: There was no reported case series of WD in Myanmar.This…
2016 International Congress
Clinical and neuroimaging outcomes up to 18 years after fetal tissue transplant for Parkinson’s disease
C. Henchcliffe, J. Carter, A. Hanineva, Y. Kang, J. Babich, S.M. Gollomp, A.P. Strafella, A. Fasano, L.D. Ravdin, N. Hellmers, C. McRae (New York, NY, USA)
Objective: To characterize clinical and radiological outcomes in 4 patients with Parkinson's disease (PD) at 16-18 years post-transplant of fetal ventral mesencephalic (fVM) tissue into…
2016 International Congress
PINK1-dependent clearance of depolarized mitochondria is driven by the UPS and can occur independently of (macro)autophagy
A. Rakovic, J. Ziegler, C.U. Mårtensson, J. Prasuhn, K. Shurkewitsch, P. König, H.L. Paulson, C. Klein (Luebeck, Germany)
Objective: To disect the role of macroautophagy in PINK1-/Parkin-dependent removal of depolarized mitochondria. Background: The ubiquitin ligase Parkin and mitochondrial kinase PINK1 function together in…