2025 International Congress » Dystonia: Genetics

A Case of SGCE Myoclonus-Dystonia diagnosed in a 70-Year-Old Male

V. Mazo, P. Atit, N. Shneyder, N. Rincon-Flores (Tampa, USA)

A novel homozygous mutation in PANK2 gene mutation in a South- Asian male with typical PKAN

H. Chovatiya (Surat, India)

Biallelic Variants in ACER3 Encoding Alkaline Ceramidase 3 Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Progressive Leukodystrophy

R. Kaiyrzhanov, A. Study Group, H. Houlden, R. Maroofian (Shymkent, Kazakhstan)

Case Report of a Brazilian Family With New VUS for PLAN

M. Medeiros, M. Augustin (Porto Alegre, Brazil)

Clinical and Genetic Profile of DYT-THAP1 in Asian Indian Patients

D. Radhakrishnan, A. Saini, K. Tayade, V. Holla, N. Kamble, P. Kukkle, A. Agarwal, D. Garg, L. Patil, M. Chandarana, N. Barad, N. Kumar, E. Arunmozhimaran, A. Srivastava, M. Bhatt, P. Pal, R. Rajan (Indore, India)

Deep Brain Stimulation in a Patient with Dystonia-Parkinsonism Secondary to a c.609G>A PLA2G6-Associated Neurodegeneration Variant

J. Patino, M. Christie (Houston, USA)

Diagnostic yield of commercial genetic testing for dystonia in a Canadian movement disorders cohort

K. Senkevich, R. Chen, A. Fasano, C. Ganos, S. Fox, A. Lang, S. Lidstone, R. Munhoz, E. Slow, A. Strafella, E. Swinkin, Z. Gan-Or, L. Kalia (Montreal, Canada)

Dystonia as a Rare Manifestation of POLG-Related Disease: A Case Report

A. Medhus, L. Kovalchick, E. Krause (Austin, USA)

Dystonia associated with fluoxetine in a patient, CYP2D6*4/*4 (poor) metabolizer: role of drug-drug interactions

I. Sarac, H. Sarac, F. Borovecki, N. Henigsberg, K. Zic (Zagreb, Croatia)

From syndrome to genetics: Genetic Etiologies of Dystonia with Anarthria/Aphonia

A. Menetrey, E. Rayco, M. Emamikhah Abarghouei, A. Lang, C. Gorodetsky, C. Ganos (Toronto, Canada)

Novel presentation of PRRT2 with paroxysmal dystonia and responsive to carbidopa/levodopa.

J. Cremin-Endes, M. Walsh, M. Higginson, N. Hack (San Diego, USA)

Phenotypic Overlap of CACNA1A-Related Disorders

M. Rochman, A. Dessy (Phialdelphia, USA)

The Diagnostic Dilemma in ATP7B Heterozygosity

P. Kahali, C. Siskind, S. Karjagi, A. Negi, L. Yang, H. Bronte-Stewart, M. Ferris (Palo Alto, USA)

The Role of the Immune System in Dystonia: Insights from HLA genotyping

M. Lindloge, L. Scorr, B. Laabs, D. Ellinghaus, A. Franke, H. Jinnah, C. Klein, K. Lohmann (Altanta, USA)

The Trembling Descent: Down the Stairs Dystonia in Galactosemia

D. Menghani, R. Vasireddy, Z. Guduru (Lexington, USA)

Two Cases of SCN4A Temperature-Sensitive Sodium Channelopathy: From Dystonia to Myotonia

B. Talavera Esperanza, N. Chinchihualpa-Paredes, Z. Yu, A. Herrera, P. Vega, E. Hill, M. Kauffman, A. Espay, L. Marsili (Cincinnati, USA)

Undescribed Variant of the THAP1 Gene Likely Pathogenic Associated with DYT6 – Case Report

J. Sánchez León, T. Luise Denicol, C. Matté Dagostini, D. Dos Santos, C. Habekost, A. Hilbig, C. Mello Rieder (Porto Alegre, Brazil)

Unusual presentation of POLR3A-associated leukodystrophy – two cases reported

N. Mazalica, A. Milovanovic, M. Sarcevic, A. Tomic, V. Markovic, M. Brankovic, A. Marjanovic, N. Dragasevic-Miskovic (Belgrade, Serbia)

When Dystonia mimics Multiple Sclerosis : A Familial case series of GCH1 misdiagnosis

B. Perraud, I. Beaulieu-Boire (Sherbrooke, Canada)