2023 International Congress » Dystonia: Epidemiology, Genetics, Phenomenology

A Comparison of Cervical Dystonia in Parkinson’s Disease and Idiopathic Isolated Cervical Dystonia

L. Higginbotham, S. Perez Parra, L. Scorr, H. Jinnah, S. Factor (Atlanta, USA)

A novel THAP1 variant presenting with early-onset generalized dystonia in a family

A. Dellert, B. Rodrigues, N. Prakash (Farmington, USA)

Association of NOTCH2NLC repeat expansions with dystonia

J. Lin, C. Li, Q. Jiang, D. Pang, R. Ou, Q. Wei, Y. Hou, L. Zhang, H. Shang (Chengdu, China)

Bradykinesia in Patients with Cervical Dystonia: Objective Assessment with Optical Sensor

Z. Kosutzka, B. Gastanova, P. Matejicka, S. Kajan, P. Valkovic, M. Minar (Bratislava, Slovakia)

Case of neuroferritinopathy with isolated dystonic leg cramps and normal neuroimaging

F. Mustafa, K. Sai Krishna, A. Das, A. Garg, A K. Srivastava (NEW DELHI, India)

Case report of atypical PKAN expressed in late sixth-decade

S. Park (Daejeon, Republic of Korea)

Cervical Dystonia Patients with Psychiatric Disorders Show More Motor and Less Non-Motor Improvement after DBS surgery.

A. Weide, A. Khanom, Y. Wiggerts, A. Macerollo, M. Beudel, R. de Bie, Y. Namavar, R. Schuurman, J. Osman-Farah (Amsterdam, Netherlands)

Childhood-onset writer’s cramp evolving to generalised dystonia –a new mutation in KMT2B gene

M. Sequeira, M. Soares, J. Rosa (Lisboa, Portugal)

Chromosomal Microarray Analysis for genetic evaluation of dystonia

A. Saini, R. Rajan, R. Mewara, B. Verma, N. Gupta, D. Radhakrishnan, E. A, A. Gupta, V. Vy, M. Singh, R. Bhatia, A. Srivastava, M. Srivastava (New Delhi, India)

Clinical presentation and evolution of isolated focal and segmental dystonia in adults – 20 years experience from a botulinum toxin clinic

A. Vijayaraghavan, D. Divya, S. Krishnan (Trivandrum, India)

Custom-made Application Interface using Wacom® Tablet for Assessment of Writer’s Cramp

K V. Vysakha, VR. Radhakrishnan, PJ. James, SK. Krishnan, DK. K P (Trivandrum, India)

Diagnostic and treatment burden of dystonia in Turkey: a patient journey map

R. Yilmaz, N. öksüz, B. Samancı, A. Acarer, M. Ceylan, N. Durmaz-Celik, H. Erdem, S. özkan, H. Hanağası, O. Doğu, C. Akbostancı (Ankara, Turkey)

Double trouble: dystonic tremor due to FXTAS in a SCA1 family

P. Santurelli, G. Bonato, R. Polli, A. Murgia, M. Carecchio (Padova, Italy)

Dystonia and women: impact on reproductive life, life satisfaction and psychosocial factors

G. Cabañas Engenios, N. Mena García, R. Pastor González, M. Campos Jiménez, A. Patiño Patón, M. López Morales, E. Pulido Sánchez, R. Berbegal Serralta, S. Lozano Veiga, E. Cañada Lahoz, E. Casas Peña, A. Alonso Cánovas (Madrid, Spain)

dystonia caused by a rare variant of TUBB4A gene: a case report in a non-asian population

R. Ferreira, N. Frota, JI. Landim, M. Bessa, P. Matos, D. Rangel, F. Carvalho (Fortaleza, Brazil)

Dystonia in the Middle East – The Cleveland Clinic Abu Dhabi Experience

S. Mansoor, K. Waqar, M. Thomas, S. Mittal (Abu Dhabi, United Arab Emirates)

Dystonic tremor as main manifestation of a large SCA21 family

V. Yahya, E. Monfrini, E. Moro, A. Di Fonzo (Milan, Italy)

DYT1 gene mutation: an atypical presentation with myoclonic dystonia

G. Belluscio, F. Valentino, G. Cosentino, S. Gana, R. Zangaglia, C. Pacchetti (Pavia, Italy)

Establishing a Natural History of X-linked Dystonia Parkinsonism

P. Acuna, ML. Supnet-Wells, N. Spencer, JK. de Guzman, M. Russo, A. Hunt, C. Stephen, C. Go, S. Carr, N. Ganza-Bautista, JB. Lagarde, S. Begalan, T. Muthaupt-Buell, G. Aldykiewicz, L. Paul, L. Ozelius, C. Bragg, B. Perry, J. Green, J. Miller, N. Sharma (Roxas City, Philippines)

Exome-wide and Mitogenome Sequencing of Indian Dystonia Patients

I. Singh, A. Saini, R. Rajan, A. Srivastava (DELHI, India)

Genetic spectrum of monogenic dystonia in Asian Indian patients

R. Rajan, A. Saini, R. Mewara, B. Verma, D. Radhakrishnan, A. Agarwal, E. A, A. Gupta, V. V Y, M. Singh, R. Bhatia, I. Singh, R. Mir, F. Mohammad, B. B K, V. Scaria, A. Srivastava, M V. Srivastava (New Delhi, India)

Hand to mouth: differences between musicians’ hand and embouchure dystonia

A. Lee, J. Doll-Lee, E. Altenmüller (Hannover, Germany)

Hemi-dystonia secondary to encephalitis and its response to staged pallidotomy

S. Yadav, A. Das, A. Srivastava (Delhi, India)

Hereditary generalised dystonia associated with a new large duplication on the X chromosome

A. Costa, D. Pereira, M. Malaquias, A. Brandão, J. Oliveira, M. Magalhães (Porto, Portugal)

Hereditary spastic paraparesis due to SPG11 gene mutation presenting as dopa responsive dystonia

P. Chatterpal, F. Mustafa, D. Mr, AK. Srivastava, K. Sai Krishna (NEW DELHI, India)

Metoclopramide-induced acute dystonic reaction caused by CYP2D6 *4/*4 and CYP2D6 *10/*10 genotypes

I. šarac, H. šarac, F. Borovečki, N. Božina, I. Ivek, L. Bagarić Krakan, Z. Krešić (Zagreb, Croatia)

Monogenic Dystonia and Deep Brain Stimulation: Single Center Experience

V. Racki, M. Hero, E. Papic, G. Rozmaric, M. Raguz, B. Petek, B. Peterlin, D. Chudy, V. Vuletic (Rijeka, Croatia)

Mutation screening of PCDHGB1 variants in a large dystonia cohort

J. Lin, C. Li, Q. Jiang, R. Ou, Q. Wei, Y. Hou, L. Zhang, K. Liu, Y. Xiao, T. Yang, S. Wang, D. Pang, Y. Yu, Y. Cui, W. Song, B. Zhao, J. Yang, X. Chen, R. Huang, Y. Wu, H. Shang (Chengdu, China)

Oh man: Why are males more prone to Musician’s Dystonia?

J. Doll-Lee, E. Altenmüller, A. Lee (Hannover, Germany)

Pain and quality of life in cervical dystonia

L. Herrmann, L. Vorbeck, A. Palisi, A. Maurer, S. Lezius, J. Mallwitz, M. Gelderblom, S. Zittel (Hamburg, Germany)

PFBC and dystonia: description of a cohort and peculiar cases

G. Bonato, S. Andretta, C. Bertolin, L. Salviati, M. Carecchio (Padova, Italy)

Presenting the Dystonia Pain Classification System (Dystonia-PCS)

C. Listik, E. Listik, F. Rolim, D. Portela, S. Lloret, N. Araújo, P. Carvalho, G. Santos, J. Limongi, F. Cardoso, V. Mylius, F. Brugger, A. Fernandes, E. Barbosa, M. Teixeira, H. Ferraz, S. Camargos, R. Nascimento, M. Cunningham, L. Moriyama, S. Lino, F. Vale, J. Lapa, R. Cury, D. Andrade (Sao Paulo, Brazil)

Pronounced Cervical Dystonia in Ataxia with Vitamin E Deficiency

M. Soares, T. Guimarães, J. Parmera, M. Oliveira, R. Barbosa, F. Kok, E. Barbosa, R. Cury (São Paulo, Brazil)

The Link between Handedness and Prevalence of Musician’s Dystonia – A Systematic Literature Review

S. Ouennane, S. Alici, M. Tiihonen, M. Butz (Duesseldorf, Germany)

The Link between Handedness and Prevalence of Writer’s Cramp – A Systematic Literature Review

S. Alici, S. Ouennane, M. Tiihonen, M. Butz (Duesseldorf, Germany)

The Pain in Dystonia Scale (PIDS): Development and Validation

V. Bruno, B. Achen, F. Francesca, R. Erro, S. Fox, M. Edwards, A. Schrag, M. Stamelou, S. Appel-Cresswell, G. Defazio, K. Ray Chaudhur, S. Pirio Richardson, H. Jinnah, D. Martino (Calgary, Canada)

The Pistol Sign

S H. Wimalaratna (Oxford, United Kingdom)

The role of genetic testing in Dystonia diagnosis

C. Guedes Vaz, J. Moura, D. Costa, A. Sardoeira, M. Magalhães (Porto, Portugal)

Transcriptomic profiling in DYT1 dystonia: unravelling pathogenic pathways.

N. Setó-Salvia, S. Wrigley, P. Cullinane, J. Hamilton, C. Arber, U. Yaman, H. Houlden, D. Salih, TT. Warner (London, United Kingdom)

Understanding neuropsychological features of dopa responsive dystonia in children

R. Rattihalli, A. Nemeth, K. Scarff, M. Kurian (Oxford, United Kingdom)

Voice- tremor in a patient with positive VPS 16 nonsense mutation: Expanding the phenotype

K. Kunj, A. Das, A. Srivastava (New Delhi, India)