Mov Disord Vol 31, Suppl 2 Archives - Page 124 of 207 - MDS Abstracts

2016 International Congress
Insulin dependent diabetes and hand tremor
S. Khachaturyan, G. Avagyan, K. Harutyunyan, A. Voskanyan, I. Gabrielyan, H. Amirjanyan, H. Manvelyan (Echmiadzin, Armenia)
Objective: Tremor is the most common type of involuntary movement. Clinically tremor can be classified into physiological, essential, dystonic, Parkinsonian and psychogenic. Risk for hand…
2016 International Congress
MRI guided high-intensity focused ultrasond for the treatment of essential tremor and Parkinson’s disease: Clinical outcome and radiological findings of unilateral thalamotomy
R. Martínez-Fernandez, J.A. Pineda-Pardo, M. del Álamo, F. Hernández, I. Obeso, S. Casas, P. Pastor, C. Oliver, L. Vela, J.A. Obeso (Madrid, Spain)
Objective: To report our clinical experience in the treatment of essential (ET) and Parkinson's disease (PD) tremor with MRI guided High-Intensity Focused Ultrasound (MRgHIFU). Background:…
2016 International Congress
Eye movement abnormalities in essential tremor and other neurodegenerative diseases (Parkinson’s disease, spino-cerebellar ataxia, Huntington disease)
M. Wojcik-Pedziwiatr, M. Rudzinska, K. Zajdel, W. Soltan, J. Slawek, A. Szczudlik (Krakow, Poland)
Objective: To evaluate eye movement abnormalities in ET patients in comparison with matched according to age and gender controls and patients with other neurodegenerative disease…
2016 International Congress
Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient
H.A.G. Teive, C.L. Boguszewski, S. Raskin, C. Buck, S.B. Seminara (Curitiba, Brazil)
Objective: The aim of this study is to describe a case report of a Brazilian patient with sporadic cerebellar ataxia, associated with hypogonadotropic hypogonadism, and…
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…