MDS Virtual Congress 2020 » Dystonia: Epidemiology, Genetics, Phenomenology

A case of generalized early-onset dystonia with a novel low-penetrant THAP1 missense variant

I. Keller Sarmiento, A. Fraint, L. Kinsley, S. Lubbe, N. Mencacci, T. Simuni, D. Krainc (Chicago, IL, USA)

A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa

S. Medarametla, B. Nataraju, S. Kodapala, S. Raju (Bangalore, India)

A Novel Variant of TUBB4A Dystonia (DYT4): A Case Report

T. Lee, C. Goldin, D. Kern (Aurora, CO, USA)

Case of percussionist dystonia in playing the janggu, a traditional Korean percussive instrument

S.K Song, J.H Kang (Jejusi, Republic of Korea)

Comparison of Dystonia Rating Scales in Children with Primary (Isolated) Dystonia

M. Masten, J. Mink (Rochester, NY, USA)

Concordance of different evaluation approaches of non-motor symptoms in patients with cervical dystonia

V. Han, K. Kulcsarova, J. Ventosa, Z. Gdovinova, M. Skorvanek (Kosice, Slovakia)

De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation

N. Schell, J.K Krauss, A. Saryyeva, C. Klein, N. Brüggemann (Luebeck, Germany)

Development of novel treatment strategies for SGCE dystonia using patient-derived induced pluripotent stem cells (iPSCs)

S. Staege, A. Kutschenko, P. Seibler, K. Grütz, A. Hermann, F. Wegner (Hannover, Germany)

Endophenotyping adult-onset isolated cervical dystonia: Does period of onset of mood disorder matter?

I. Ndukwe, S. O'Riordan, M. Hutchinson (Dublin, Ireland)

Fatigue in patients with focal and segmental dystonia

S. Tomic, Z. Popovic, I. Mandic, T. Gilman Kuric, R. Perkovic, H. Bradvica (Osijek, Croatia)

Frequency and phenotypic spectrum of ANO3 dystonia: A single-center cohort study

L.T Jiang, L.X Li, Y. Liu, X.L Zhang, Y.G Pan, L.J Jin (Shanghai, China)

Genetic testing in pediatric dystonia and influence of clinical factors on diagnostic yield

T. Larsh, H. Fernandez, M. Aldosari (Cleveland, OH, USA)

Idiopathic Upper Limb Dystonia – Time for a better understanding

T. Ercoli, R. Pellicciari, G. Fabbrini, G. Ferrazzano, MM. Mascia, R. Eleopra, A. Albanese, R. Erro, P. Barone, L. Avanzino, R. Ceravolo, M. Esposito, L. Bertolasi, C. Scaglione, A.R Bentivoglio, M.C Altavista, F. Bono, P. Girlanda, A. Pisani, M.S Cotelli, B. Minafra, A. Castagna, M. Zibetti, S. Misceo, L. Magistrelli, G. Cossu, M. Coletti Moja, A. Berardelli, G. Defazio (Cagliari, Italy)

Impaired inhibitory control of saccadic eye movements in cervical dystonia: an eye tracking study

F. Carbone, P. Ellmerer, S. Spielberger, P. Mahlknecht, E. Hameter, A. Hussl, A. Hotter, R. Granata, K. Seppi, S. Bösch, W. Poewe, A. Djamshidian (Innsbruck, Austria)

Late-Onset Dopa-Responsive Dystonia: A Case Report

O. Oztop Cakmak, S. Ertan, S. Tekgul, N. Basak (Istanbul, Turkey)

Mutation screening and clinical features analysis in patients with early-onset primary dystonia

X.J Gu, J. Yang, L.Y Zhang, QQ. Wei, H.F Shang (Chengdu, China)

No pathogenic mutations in HPCA in Chinese dystonia patients

J. Ma, Y.M Liu (Jinan, China)

Non-Motor Symptoms In Chinese Patients With Isolated Generalized Dystonia: A Case-Control Study

S.L Li, X.H Wan, L. Wang, YY. Mai, L. Qiao, DD. Zhang (Beijing, China)

Novel GNO1 mutation in monozygotic twins responsive to DBS

B. Bulica (West Bloomfield, MI, USA)

Pantothenate kinase associated neurodegeneration: A familial case report of two sisters with severe dystonia

B. Tserensodnom (Ulaanbaatar, Mongolia)

Phenotypic heterogeneity in Chinese dystonia patients with KMT2B variants

X.Y Li, L. Wang, X.H Wan (Beijing, China)

Prevalence of Arm Tremor Associated With Dystonia (Arm-TAWD) in patients with Adult-onset Isolated Cervical Dystonia in an Irish population.

I. Ndukwe, S. O'Riordan, M. Hutchinson (Dublin, Ireland)

Prevalence of Spread of Dystonia and its effect on health-related quality of life in an Irish population with adult-onset isolated cervical dystonia.

I. Ndukwe, S. O'Riordan, M. Hutchinson (Dublin, Ireland)

Recent Clinical variation of Segawa Disease in Japan

K. Hoshino, K. Kimura, Y. Nagao, M. Fukumizu, H. Fukutda, M. Nozaki, M. Hayashi, I. Kawahata (Tokyo, Japan)

The clinical features, treatments and genetic characteristics in Chinese children with dopa-responsive dystonia

L. Dai, C. Ding, F. Fang (Beijing, China)

The Dystonia Coalition Natural History Project: An Available Research Resource

S. Norris, H. Jinnah, L. Wright, G. Kilic-Berkmen, J. Hieshetter, D. Peterson, S. Pirio-Richardson, J. Perlmutter (St. Louis, MO, USA)