2026 International Congress » Dystonia: Genetics

A Novel VAC14 Variant Associated With Levodopa-responsive Generalized Dystonia

G. Urciuolo, J. Yomtoob, T. Fonseca, T. Abramova, L. Kinsley, L. Verhagen, N. Mencacci (Rome, Italy)

ANK2 Mutations Associated with a Myoclonus-Dystonia Phenotype: Expanding the Neurological Spectrum of Ankyrin-B Dysfunction

A. Lackova, M. Zech, J. Necpal, Z. Brezna, V. Han, K. Kulcsarova, M. Ostrozovicova, T. Svorenova, Z. Gdovinova, M. Skorvanek (Munich, Germany)

Audit of Diagnostic Standards in the Dystonia Clinic

E. Ryder, V. Lafort, O. Killian, C. Fearon, S. O'Riordan, L. Williams (Dublin, Ireland)

Childhood-onset Dystonia Linked to KIF5A:p.Arg422Cys: Case Report and Functional Characterization

P. Lorenzo-Barreto, R. Repossi, I. Muro, E. Casas, S. López-Llorente, V. Hernando-Requejo, L. Ballesteros-Plaza, J. Hoenicka, L. López-Manzanares (Madrid, Spain)

Detecting Repeat Expansions: Added Diagnostic Yield in Movement Disorders by Optical Genome Mapping

M. Pauly, H. Tiefenbach, K. Neveling, M. Thomsen, F. Hinrichs, S. Löns, J. Trinh, A. Dalski, C. Klein, A. Münchau, K. Ullrich, N. Brüggemann, K. Lohmann (Lübeck, Germany)

Familial Myoclonus-Dystonia Associated with SGCE Variant in a Chinese Family: Clinical and Genetic Characterization of Two Siblings

G. Xing (Guang Zhou, China)

From Cerebral Palsy to GNAO1-Related Movement Disorder: An Adult Diagnosis with Marked Response to Pallidal Deep Brain Stimulation

S. Antigua-Jimenez, M. Situ-Kcomt, M. Seier (Omaha, USA)

Genetic Predictors in Dystonia: A Phenotypic Analysis.

N. Gowda, N. Kamble, V. Holla, R. Yadav, P. Pal (Bengaluru, India)

Globus Pallidus Internus Deep Brain Stimulation for Dystonia in COX20-Related Mitochondrial Complex IV Deficiency (MC4DN11): First Reported Case

R. Toklu çetinkaya, N. Durmaz çelik, S. özkan (eskişehir, Turkey)

Hereditary Adult-Onset Generalized Dystonia Associated with Pathogenic IRF2BPL Mutation

J. Plagenz, T. Harlow (Fargo, USA)

High Frequency of Pathogenic Variants in Neurodevelopmental Genes in Patients with Dystonia

L. Welzel, M. Thomsen, G. Kilic-Berkmen, S. Loens, E. Lohmann, AH. Tan, S. Frank, A. Lang, J. Perlmutter, M. Möller, S. Franzenburg, SY. Lim, A. Münchau, HA. Jinnah, H. Busch, T. Bäumer, D., D., C. Klein, K. Lohmann (kamm,odorfer,pfister,zeuner,zittel)

Late-onset THAP-1 with SCA8 expansion mimicking functional movement disorder, case report.

ZH. Myrzayev, M. Mukhamadiyeva, D. Bagautdinov, CH. Shashkin (Almaty, Kazakhstan)

Modifiers of Intergenerational Repeat Changes in X-linked Dystonia–Parkinsonism

N. Endaya, S. Algodon, M. Brand, B. Laabs, R. Rosales, R. Jamora, C. Diesta, G. Saranza, N. Brüggemann, C. Klein, A. Westenberger (Lübeck, Germany)

SGCE Mutations in Chinese Dystonia Patients: A Dual-Center Sequencing Study and Literature Review

J. Ma, X. Wan, Y. Liu (Ji Nan, China)

Uncovering novel genomic alterations in dystonia using gene burden analysis

A. Saini, M. Kumar, S. Sandeep, I. Singh, V. Chouhan, D. Radhakrishnan, A. Agarwal, D. Garg, A. Gupta, V. Vishnu, M. Singh, R. Bhatia, M. Faruq, A. Srivastava, B. Krishnamma, R. Rajan (New Delhi, India)