2022 International Congress » Ataxia

3′ UTR variations may alter the mRNA expression in spinocerebellar ataxia type-2.

R. Singh, V. Swarup, M. Faruq, A. Srivastava (New delhi, India)

A CASE REPORT OF EARLY-ONSET SPINOCEREBELLAR ATAXIA TYPE 35

I. Delpino Delaguno, C. Derojas Leal, O. León Plaza, MJ. Gómez Heredia, F. Pérez Errazquin (Málaga, Spain)

A novel platform for home-based, remotely supervised, transcranial direct current stimulation treatment and assessment for Cerebellar ataxia: A randomized, double-blind, sham-controlled, crossover, feasibility study

N. Inbar, M. Abo-Said, P. Ponger, S. Frenkel-Toledo, M. Brozgol, Z. Hausdorff, Z. Yekutieli, D. Gershman, A. Hilel, A. Ezra, S. Springer, T. Gurevich (Tel Aviv, Israel)

A novel RFC1 repeat motif (ACGGG) in a patient with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)

M. Thomsen, M. Borsche, F. Hinrichs, C. Helmchen, N. Brueggemann, K. Lohmann (Luebeck, Germany)

A patient with childhood-onset hearing loss and adult-onset ataxia was genetically diagnosed with Perrault syndrome 5

J. Park, J. Seok (Cheonan, Republic of Korea)

Analyzing gait videos to identify and evaluate spinocerebellar ataxia types 1 and 3

P. Yang, M. Hasan, W. Rahman, M. Islam, T. Olubajo, J. Thaker, A. Abdelkader, E. Hoque, T. Ashizawa (Rochester, USA)

Anti-Ma2 Antibody Paraneoplastic Cerebellar Degeneration Associated with Renal Cell Carcinoma: A Case Report.

K. Zahra, N. Ahmed, D. Sivakumar, E. Urrea-Mendoza, V. Veerappan (Greenville, USA)

Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3: a randomized, double-blind, sham-controlled trial

R. Maas, S. Teerenstra, I. Toni, T. Klockgether, D. Schutter, B. Vande Warrenburg (Nijmegen, Netherlands)

Challenges in diagnosis of hereditary ataxia and spastic paraplegias

A. Planas-Ballvé, N. Caballol, X. Cardona, I. Gómez Ruiz, M. Balagué Marmaña, A. ávila (Barcelona, Spain)

Challenging diagnosis of familial Gerstmann-Straussler-Scheinker disease with normal brain image: a case report and systematic review

KY. Park, SY. Jo, SJ. Chung (Seoul, Republic of Korea)

Clinical and genetic characterization of two Portuguese families with spinocerebellar ataxia 48

MJ. Lima, AR. Silva, P. Bem, C. Cruto, S. França, M. Rodrigues, A. Rua, M. Reis, J. Freixo, J. Oliveira, P. Salgado, M. Calejo (Senhora da Hora, Portugal)

Clinical and Genetic spectrum of a series of congenital ataxias patients.

R. Baviera-Muñoz, L. Carretero-Vilarroig, M. Campins-Romeu, C. Morata, I. Sastre-Bataller, N. Muelas, I. Martínez-Torres, M. Tomás-Vila, T. Jaijo, E. Aller, L. Bataller (Valencia, Spain)

Clinical, imaging and genetic characteristics from an Indian ARSACS cohort

A. Cherian, K P. Divya, B. Thomas (Thiruvananthapuram, India)

Cortical Correlates of Gait in Pre-Manifest And Early Spinocerebellar Ataxia

V. Shah, D. Safarpour, F. Horak, C. Gomez, M. Mancini ()

COVID-19 encephalitis with anti-mGluR1 antibody-positive cerebellar ataxia

F. Cheng, K. Tang, X. Wang (Kingston upon Hull, United Kingdom)

Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada: A Multicenter Study

S. Alshimemeri, D. Aboalsamh, L. Zhou, S. Furtado, S. Kraft, V. Bruno, A. Duquette, B. Brais, O. Suchowersky, R. Munhoz, E. Slow (Riyadh, Saudi Arabia)

Detection of specific antigens in immune-mediated cerebellar ataxias

A. Kudo, H. Yaguchi, M. Abe, A. Nagai, S. Shirai, I. Takahashi-Iwata, M. Matsushima, M. Watanabe, S. Hatakeyama, I. Yabe (Sapporo, Japan)

Diagnostic algorithm in recessive and sporadic early-onset ataxias

D. Gasca Saldaña, C. Boll Woehrlen, N. Jaramillo, C. Alaez-Verson (Ciudad de México, Mexico)

Diagnostic yield for point mutation related SCAs through exome sequencing for undetermined ataxias

JL. Pedroso, T. Silva, M. França Jr, O. Barsottini (São Paulo, Brazil)

Differential temporal dynamics of axial and appendicular ataxia in SCA3

R. Maas, S. Teerenstra, M. Lima, P. Pires, L. Pereira, J. van Gaalen, D. Timmann, J. Infante, C. Onyike, K. Bushara, H. Jacobi, K. Reetz, M. Santana, J. Ribeiro, J. Hübener-Schmid, J. de Vries, M. Synofzik, L. Schöls, H. Garcia-Moreno, P. Giunti, J. Faber, T. Klockgether, B. Vande Warrenburg (Nijmegen, Netherlands)

Digital Sway Measures for Spinocerebellar Ataxia

V. Shah, J. Mcnames, H. Casey, K. Floyd, R. Rodriguez-Labrada, J. Schmahmann, L. Rosenthal, S. Perlman, M. El Gohary, K. Sowalsky,, M. Mancini, L. Velázquez-Pérez, F. Horak, C. Gomez (Portland, USA)

Electrophysiologic and Kinematic characterization of degenerative cerebellar ataxia

J. Ganguly, O. Samotus, Y. Tamilselvam, Y. Mahdi, M. Tuesta, D. Aur, M. Jog (London, Canada)

Electrophysiology and clinical description of Tremor in Spinocerebellar Ataxia 12 (SCA12)

A. Srivastava, M. Narang, R. Rajan, M. Faruq (New Delhi, India)

Evaluation of rapid eye movement behavioral disorder (RBD) in sporadic adult onset ataxia (SAOA)- A prospective observational study

ANI. Das, A. Srivastava, A. Jaryal, R. Rajan (Delhi, India)

Expanding the services of Neurogenetic Clinic – Lessons learnt from Cerebellar Ataxia cohort

P. Ponger, D. Barel, A. Mory, A. Kurolap, A. Bar David, H. Feldman Baris, N. Giladi, T. Gurevich (Tel Aviv, Israel)

Fragile X Associated Tremor and Ataxia Syndrome (FXTAS) presents with widespread reactive gliosis and white-matter specific astrocyte degeneration

B. Dufour, V. Martínez-Cerdeño (Sacramento, USA)

Gait ataxia and Autonomic dysfunction as early signs of Creutzfeldt-Jakob Disease: A Case Report

S. Zaheer, E. Urrea-Mendoza, V. Veerappan (Greenville, USA)

Giant symptomatic capillary telangiectasia: uncommon cause of cerebellar ataxia

A. Fernández Revuelta, V. Gómez Mayordomo, M. Hernández Holgado, M. Fernández García, A. Baltasar Corral, E. López Valdés, R. García-Ramos (Madrid, Spain)

Impaired reinforcement learning in patients with cerebellar ataxia

J. Nicholas, CJ. Amlang, CY. Lin, N. Desai, L. Montaser-Kouhsari, SH. Kuo, D. Shohamy (New York, USA)

Isolated ZIC4 antibody associated paraneoplastic cerebellar degeneration

A. Agarwal, A. Garg, A. Srivastava (New Delhi, India)

Japanese cases of Sez6l2 autoimmunity

M. Abe, H. Yaguchi, A. Kudo, A. Nagai, S. Shirai, I. Iwata, M. Matsushima, A. Kimura, T. Shimohata, I. Yabe (Sapporo-shi, Japan)

Late Onset Ataxia, Myoclonus, and Cognitive Decline in a Patient with Xeroderma Pigmentosum: A Case Report

J. Modica, A. Hewitt, P. Morrison (Rochester, USA)

Late-onset cerebellar ataxia: case report of a new CNV on TTBK2 gene as possible cause of SCA-11

I. Rodríguez (Monterrey, Mexico)

Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene

V. Swarup, H. Singh, D. Gupta, I. Singh, A. Srivastava (New Delhi, India)

LIG1 polymorphism modifies the age at onset in patients with Spinocerebellar Ataxia type 2

LE. Almaguer-Mederos, D. Cuello-Almarales, R. Aguilera-Rodríguez, D. Almaguer-Gotay, Y. González-Zaldívar, R. Lamas-González, S. Gispert, G. Auburger (Holguin, Cuba)

Machine learning-based classification of SCA1, SCA2, and Healthy controls using graph features

A. Indoria, S. Bhardwaj, AS. Sunny, S. Hegde, N. Kamble, J. Saini, R. Yadav, PK. Pal, RD. Bharath (Bengaluru, India)

Network detection and connectivity analysis to predict DBS-induced ataxia in essential tremor

B. Weigl, M. Reich (Würzburg, Germany)

Neuropathological profile of tauopathy in spinocerebellar ataxia type 8

G. Beck, Y. Yonenobu, R. Yamashita, T. Iwaki, S. Murayama, H. Mochizuki (Suita, Japan)

Neuropsychological evaluation of cerebellar cognitive function in a series of patients with genetically confirmed CANVAS.

I. Albajar, J. Equiza, A. Lopez-de-Munain, M. Barandiaran, A. Pujol Onofre, J. Ruiz, M. Maneiro, E. Mondragon, A. Vargas, V. Velez, M. Ruiz Sales, E. Verdura Peralta, P. Iruzubieta (San Sebastian, Spain)

NUS1 Mutation Causing Ataxia, Myoclonus, and Progressive Encephalopathy

B. Barton, M. Rosenbaum (Chicago, USA)

Paraneoplastic Cerebellar Ataxia Due To Ovarian Teratoma: A Case Report

R. Zouari, C. Jeridi, F. Nabli, MZ. Saeid, S. Blel, S. Ben Sassi (tunis, Tunisia)

Role of resting-state fMRI-based brain network modularity in differentiating SCA1 and SCA2

S. Bhardwaj, AS. Sunny, SK. Khokhar, S. Prasad, NL. Kamble, S. Hegde, K. Kumar, J. Saini, R. Yadav, PK. Pal, RD. Bharath (Bengaluru, India)

SARS-CoV-2 Infection and Spinocerebellar Ataxia 12: Demographics, Outcomes and Post- COVID Spectrum

IS. Singh, VS. Swarup, AKS. Srivastava (New Delhi, India)

SCA5 – A new Cause of Parkinsonism?

Y. Trufanov, N. Svyrydova, A. Galusha (Kyiv, Ukraine)

Social cognition in patients with cerebellar neurodegenerative disorders

O. Tamas, M. Kostic, A. Kacar, A. Milovanovic, B. Salak Djokic, D. Stanisavljevic, E. Stefanova, N. Dragasevic Miskovic (Belgrade, Serbia)

Spinocerebellar ataxia 21 and phenotypic variability within a family

M. Hull, M. Parnes, J. Jankovic (Houston, USA)

Spinocerebellar Ataxia Type 5: an Unusual Infantile Onset with Development Delay

S. Gallo, L. Magistrelli, E. Contaldi, I C. Campini, R. Cantello, C. Comi (Novara, Italy)

Sporadic progressive ataxia and palatal tremor: a case series

A. Fuentes, I. Bledsoe, C. Dietiker, J. Maas, E. Brown (San Francisco, USA)

Therapies, Research Funding and Racial Diversity in Cerebellar Ataxia: A Systematic Review of the Literature

C. Kingsbury, S. Ghanekar, Y. Huang, T. Ashizawa, S. Kuo, C. Gooch, T. Zesiewicz (Tampa, USA)

Tullio phenomenon in CANVAS Syndrome

T. Liu, N. Badihian, L. Jackson, A. Hassan, E. Coon (Rochester, USA)

Two Different Clinical Presentations in SYNE1 Ataxia in Turkey

Y. Secil, A. Subasioglu (İzmir, Turkey)

Unravelling Hidden Mutations Behind the Heterozygos SYNE1 Genotype

Y. Salamatova, L. Terpak, E. Giatour, N. Shneyder (jacksonville, USA)

Volumetric analysis of the Corpus Callosum in Hereditary Cerebellar Ataxia

A. Adarmes Gomez, M. Reina, M. Grothe, M. Labrador-Espinosa, S. Jesus, D. Garcia, L. Muñoz-Delgado, F. Carrillo-Garcia, P. Mir (Sevilla, Spain)

Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families

S. Saadi, E. Cali, S. Efthymiou, S. Khan, A. Khan, J. Alvi, T. Sultan, M. Tariq, N. Malik, M. Breza, H. Houlden, S. Group, S. Baig (Faisalabad, Pakistan)