2025 International Congress » Ataxia

Meeting: 2025 International Congress

A 37 years-old man with Epilepsy and Progressive Autoimmune Ataxia

J. Balderas Juárez, A. Zepeda Rodríguez, R. Padilla García (Mexico City, Mexico)

A Case of CANVAS Misdiagnosed as Subacute Labyrinthitis and Meniere’s Disease

Y. Nishonova, B. Mukhammedaminov, N. Aripova, L. Kenjaeva (Tashkent, Uzbekistan)

A Case Report of Two Affected Siblings with Spinocerebellar Ataxia Type 1

S. Fu, U. Agarwal, I. Goldszer (Detroit, USA)

A VUS and the Value of a Biomarker in Ataxia with Oculomotor Apraxia Type 2

F. Brito, A. Guerra, R. Kauark, G. Nunes, M. Vassoler, F. Nascimento, C. Nascimento, G. Piñeiro, . (Salvador, Brazil)

Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity

M. Paucar (Stockholm, Sweden)

An Atypical Case of Ataxia and Hyperkinetic Movements

S. Gunawardena, U. Shuaib (Cleveland, USA)

Anti-Yo Syndrome Presenting as an Isolated Head Tremor with Vertigo

P. Atit, V. Mazo, R. Hurst, A. Rivera Cruz (Tampa, USA)

AOA1 Versus AOA2 : A Comparative Study Of A Tunisian Cohort

L. Hlioui, R. Zouari, R. Amouri, H. Kharrat, A. Rachdi, D. Ben Mohamed, MZ. Saeid, F. Nabli, S. Ben Sassi (Tunis, Tunisia)

Assessment of mitochondrial DNA copy number and common deletion (del4977) as candidate peripheral biomarkers for Spinocerebellar ataxia type 2

LE. Almaguer Mederos, D. Cuello Almarales, R. Aguilera Rodríguez, D. Almaguer Gotay, DO. Palenzuela Gardon, H. Camacho Rodríguez, A. Estupiñán Rodríguez, N. Canales Ochoa, S. Gispert, G. Auburger (Frankfurt am Main, Germany)

Autosomal dominant ataxias expression profiles based on distinct clinical phenotypes.

F. Shen (Chicago, USA)

Beyond the Classic Triad: An Unusual Phenomenology of Parkinsonism in a Patient with Superficial Siderosis (SS)

D. Sblendorio, J. Frey (Morgantown, USA)

Brain Structural Impairment in Spinocerebellar Ataxia Type 6: Not Restricted to the Cerebellum

B. Massuyama, T. Rezende, M. Junior, O. Barsottini, J. Pedroso (Campinas, Brazil)

Brainstem Subsegmentation in Spinocerebellar Ataxia Type 3 (SCA3)

K. Teichmann (Bonn, Germany)

Cardiac Autonomic Dysfunction in Patients with Multiple System Atrophy and Spinocerebellar Ataxia: A Comparative Study and Distinctive Machine Learning Model

P. Sathirapanya, N. Limotai, C. Limotai, N. Suanprasert, S. Rujirussawarawong, C. Kongkamol, N. Cheetanom (Bangkok, Thailand)

Case Series of 13 Hereditary Ataxia Patients From The Chiloe Islands, Chile.

E. Fernandez-Toledo, HM. Chaparro-Solano, P. Saffie-Awad (Cleveland, USA)

Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil

V. Chagas, M. Soares, M. Bezerra (Recife, Brazil)

Clinical and Genetic profile of patients presenting with Adult-onset cerebellar ataxia of probable genetic aetiology

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

Clinical and Genetic Spectrum of Early-Onset Cerebellar Ataxia in India: A Tertiary Care Center Experience

M. Raval, V. Holla, G. Arunachal, R. Raghavendra, N. Kamble, R. Yadav, P. Pal (Bengaluru, India)

Clinical and Neuroimaging Findings in ANO10-Related Cerebellar Ataxia: Evidence of Widespread Brain Atrophy

A. Milovanović, O. Tamaš, N. Mazalica, S. Pisano, S. Basaia, F. Agosta, M. Filippi, V. Kostić, N. Dragašević-Mišković (Milan, Italy)

Clinical case of cerebellar ataxia associated with temporal bone tumor

B. Mukhammedaminov, N. Aripova, L. Kenjaeva, Y. Nishonova (Tashkent, Uzbekistan)

Clinical case of Sporadic adult-onset ataxia

N. Aripova, L. Kenjaeva, B. Bakhtiyor, Y. Nishonova (Tashkent, Uzbekistan)

Compound Heterozygous SCA17 in a Vietnamese Patient

C. Knight, L. Hunt, L. Fierro-Cortes, J. Pleen (Kansas City, USA)

Correlation of the FXTAS Staging System and the FXTAS Rating Scale

D. Hall, B. Ouyang, M. Tosin (Chicago, USA)

Digital balance and gait measures show promise to track progression of Friedreich’s ataxia

V. Shah, D. Muzyka, H. Casey, J. Mcnames, M. El Gohary, K. Sowalsky, D. Safarpour, P. Carlson-Kuhta, J. Schmahmann, L. Rosenthal, S. Perlman, F. Horak, C. Gomez (Philadelphia, USA)

Effects of an Intensive Multidisciplinary Rehabilitation Program on Patients with Spinocerebellar Ataxia

F. Coimbra, MC. da Cunha, J. Veloso, M. da Cunha, MR. Moreno, E. Mosimann, L. Siciliani, JR. Junior, J. Caetano, CE. Del Rio, C. Couto (Rio de Janeiro, Brazil)

Effects of transcutaneous periodic vibratory stimulation on gait and balance function in Spinocerebellar degeneration -a pilot study

N. Togashi, S. Kubokawa, K. Minemura, K. Tateno, Y. Miyagi, A. Kawanami, K. Hasegawa (Sagamihara, Japan)

Frequency and Phenotype of GAA-FGF14 Disease in Bilateral Vestibulopathy Syndromes: Insights from Repeat Expansion Carriers, Including a Dual Diagnosis with RFC1-Related CANVAS

D. Pellerin, F. Heindl, A. Traschütz, MJ. Dicaire, AM. Hartmann, D. Rujescu, H. Houlden, B. Brais, M. Strupp, M. Synofzik (London, United Kingdom)

Friedreich Ataxia Versus Ataxia With Vitamin E Deficiency : A Comparative Study Of Electrophysiological Features

R. Zouari, L. Hlioui, R. Amouri, C. Jeridi, D. Ben Mohamed, MZ. Saeid, A. Rachdi, F. Nabli, S. Ben Sassi (Tunis, Tunisia)

Genetic Ataxias in Argentina

M. Rossi, M. Merello (Buenos Aires, Argentina)

Genotype and age at onset drive vermis atrophy in CACNA1A and GAA-FGF14 related ataxias

E. Indelicato, W. Nachbauer, M. Amprosi, E. Gizewski, S. Boesch, F. Krismer (Innsbruck, Austria)

Global Genetic Ataxia Resource: An MDSGene Online Platform

M. Rossi, H. Madoev, C. Stephen, C. Marras, K. Lohmann, B. vd Warrenburg, C. Klein (Buenos Aires, Argentina)

Hyperemesis Gravidarum Induced Wernicke’s Encephalopathy: A Case Report

J. Hawkins, V. Veerappan (Greenville, USA)

Hypothalamic Atrophy in CANVAS/RFC1

C. Lobo, V. Souza, T. Rezende, J. Neiva, P. Matos, F. Lima, A. Martinez, O. Barsottini, J. Pedroso, W. Marques Jr, M. França Jr (Campinas, SP, Brazil)

Long-Term Effectiveness and Tolerability of Vatiquinone in an Adult Friedreich’s Ataxia Population

C. Werner, S. Perlman, J. Blaize, M. Rance, J. Cherry, O. Zhang, L. Golden, D. Lynch, T. Zesiewicz (Frankfurt, Germany)

Novel findings in a Swedish RFC1-related disorder cohort

V. Alm, L. Verrecchia, M. Paucar (Huddinge, Sweden)

Novel SPTAN1 Variant in Adult-Onset Cerebellar Ataxia in Active Duty Military Member

M. Graham, J. Jacobson, L. Rohena (Fort Sam Houston, USA)

Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study

P. Pankaj, A. Srivastava, S. Kumaran, A. Garg, R. Agarwal, M. Kumar, A. Sonakar, A. Nehra (New Delhi, India)

Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum

A. Vijayaraghavan (Thiruvananthapuram, India)

Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia

R. Devaraj, R. Yadav, J. Saini, S. Hegde, M. Faruq, P. Pal (Bengaluru, India)

Pleozymes, A Multifunctional Nanozyme for Targeting Metabolic Deficits in Friedreich’s Ataxia

U. Khan, K. Mouli, A. Liopo, P. Derry, T. Kent (Houston, USA)

Progressive Ataxia in a Young Patient: Atypical Presentation of a Probable Creutzfeldt-Jakob Disease Variant VV1

F. R. Rodrigues, D. S. Rocha, D. M. Natividade, J. D. Péres, D. Di Luca, L. B. Magalhães (Vicosa, Brazil)

Quantifying ataxia in RFC1-related disorder using wearable devices

J. Franco Neiva, C. Lobo Cardoso, I. Colombani, N. Serra Santos, F. Lima, P. Assis Matos, R. Paes Guimarães, A. Muro Martinez, J. Pedroso, O. Povoas Barsottini, M. França Jr, W. Marques Jr, T. Rezende (Campinas, Brazil)

Refractory Orthostatic Hypotension, Anterocollis Predominant Cervical Dystonia and Parkinsonism Associated with a Previously Undiscovered SYT14 Gene Mutation

W. Gan, O. Carranza-Renteria, T. Fistel, S. Husain-Wilson (Boca Raton, USA)

Resting-state EEG analysis defines the signature of CACNA1A and GAA-FGF14 related channelopathies

E. Indelicato, R. Angerbauer, I. Unterberger, M. Amprosi, W. Nachbauer, S. Boesch, M. Cesari (Innsbruck, Austria)

SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia

J. Yomtoob, L. Morse, I. Keller Sarmiento, L. Kinsley, P. Opal, N. Mencacci (Chicago, USA)

Schindler Disease (a Rare Autosomal Recessive Lysosomal Storage Disorder)

SH. Elgamal, E. Fahmy, M. Ragab (Kafrelsheikh, Egypt)

Spinocerebellar Ataxia 15: The first reported case of SCA15 in Asia secondary to ITPR1 gene mutation

M. Fontanilla, P. Cataniag, M. Orteza, P. Quitasol (Baguio City, Philippines)

Spinocerebellar Ataxia 17 Presenting with Childhood Seizures and Mesial Temporal Lobe Sclerosis

E. Levoir, Y. Bronstein, P. Hickey, C. Fong (Los Angeles, USA)

Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico

S. Murillo Quintana, D. Sánchez Galván, J. Mejía Chávez, S. Flores Casas, L. Hernández Salomón (Torreón, Coahuila, Mexico)

Spinocerebellar Ataxia Type 40 (SCA-40) with a Novel Mutation in an Indian Female: A Case Report

A. Mehta, P. Hiremath, M. Javali, P. R, L. Priya, P. Acharya (Bengaluru, India)

Spinocerebellar Ataxia Type 7: First Report of Clinical and Molecular Findings of Two Family in Senegal – West Africa (Video Cases)

M. Fall (Dakar, Senegal)

The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum

D. Pellerin, JL. Méreaux, S. Boluda, MC. Danzi, MJ. Dicaire, CS. Davoine, P. Iruzubieta, B. Hayward, D. Genis, G. Spurdens, JM. Hammond, BJ. Gerhart, M. Renaud, C. Bonnet, JS. Napierala, IW. Deveson, M. Napierala, K. Usdin, A. Brice, LM. Porcel, D. Seilhean, SL. Zuchner, H. Houlden, A. Durr, B. Brais (London, United Kingdom)