Mov Disord Vol 31, Suppl 2 Archives - Page 72 of 207 - MDS Abstracts

2016 International Congress
Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series
D.A. Hall, E. Robertson, J.A. O'Keefe, A.G. Hadd, L. Zhou, E. Berry-Kravis (Chicago, IL, USA)
Objective: To describe the role of X-inactivation in clinically discordant phenotypes in sisters with a fragile X mental retardation 1 (FMR1) gene premutation but varying…
2016 International Congress
European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
T.F. Lawerman, R. Brandsma, R.J. Lunsing, J.G.M. Burgerhof, D.A. Sival, On behalf of the Childhood Ataxia and Cerebellar Study Group of the European Pediatric Neurology Society, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic, G.E. Calabro, C.E. Catsman-Berrevoets, D. Craiu, B. Dan, A. Dica, T. Franciskovic, J. Gburek-Augustat, S. Grunt, H. Hartley, F. Kammoun, C. Kennedy, M.J. Kuiper, I. Lehman, A. Lustenberger, F. Mancini, M. Mirabelli-Badenier, E. Mulder-den Hartog, M. Steinlin, M. Synofzik, C.C. Triki, E.M. Valente, G. Vasco, A. Zekavica (Groningen, Netherlands)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…
2016 International Congress
Phenomenology and therapeutic strategies in a series of patients with chorea-acanthocytosis
C. Estevez-Fraga, M. Matarazzo, R. Rigual, P. Garcia Ruiz, L. Vela, M. Kurtis, A. Minguez, R. Luquin, I.J. Posada Rodriguez, M.C. Rodriguez-Oroz, J. García de Yébenes, J.C. Martínez-Castrillo, J.L. López-Sendón (Madrid, Spain)
Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional…
2016 International Congress
Progression of motor subtypes in Huntington’s disease: A six-year follow-up
M. Jacobs, E.P. 't Hart, R.A.C. Roos (Leiden, Netherlands)
Objective: To investigate the course of motor symptoms in Huntington's disease (HD) and their relationship with cognitive- and general functioning over time. Background: The motor…
2016 International Congress
Temporal course of the UHDRS chorea score in Huntington disease
T.J. Felong, P. Auinger, S. Gandhi, V. Abler, K. Biglan, S. Papapetropoulos, C. Venuto, R. Dorsey (Rochester, NY, USA)
Objective: To describe the temporal course of Huntington disease (HD) chorea using the total maximal chorea score of the Unified Huntington Disease Rating Scale -…
2016 International Congress
Evaluation of quality of life (QOL), patient- and clinician-reported outcomes with deutetrabenazine treatment of chorea in Huntington disease in first-HD
C.M. Testa, D.O. Claassen, D. Oakes, D. Stamler, V. Sung, S. Frank, On behalf of the First-HD HSG Investigators (Richmond, VA, USA)
Objective: To assess if deutetrabenazine treatment of chorea associated with HD resulted in changes in QoL, Patient Global Impression of Change (PGIC), or Clinical Global…
2016 International Congress
Cerebellar GABA in essential tremor and dystonic tremor: A MR spectroscopy study
P. Panyakaew, H.J. Cho, S. Horovitz, M. Hallett (Bethesda, MD, USA)
Objective: To explore the role of GABA in the pathophysiology of ET and DT by using MR spectroscopy. Background: The mechanisms of tremor in ET…
2016 International Congress
Exploring the brainstem functions in cervical dystonia
P. Tocco, M.C. Tozzi, S. Monaco, L. Bertolasi (Verona, Italy)
Objective: To explore the exteroceptive brainstem reflexes in patients with cervical dystonia. Background: Dysfunction of the inhibitory components along the motor system has been reported…
2016 International Congress
Relation between the clinical features and the standardized heart to mediastinum ratio in cardiac metaiodobenzylguanidine imaging in patients with Parkinson’s disease: A multicenter cross-sectional study
T. Osada, Y. Morita, K. Ohta, S. Nogawa, K. Takahashi, K. Yamaguchi, D. Yasutomi, M. Seki, Y. Nihei, S. Iwasawa, N. Suzuki (Tokyo, Japan)
Objective: To investigate relation between the clinical features and the standardized heart to mediastinum (H/M) ratio by cardiac metaiodobenzylguanidine (MIBG) imaging in patients with Parkinson's…
2016 International Congress
Motor subtypes in Parkinson’s disease are distinguished by alterations in morphology and white matter integrity
G. Vervoort, I. Leunissen, M. Firbank, E. Heremans, E. Nackaerts, W. Vandenberghe, A. Nieuwboer (Leuven, Belgium)
Objective: This study aimed to extend current knowledge on symptomatic heterogeneity in Parkinson's disease (PD) by investigating structural alterations underpinning FC. Background: The postural instability…