2024 International Congress » Ataxia

4-Aminopyridine improves downbeat nystagmus in SCA27b: A case report

S. Coulette, M. Philibert, JM. Trocello, B. Gaymard, C. Desjardins (Paris, France)

A Head-Turning Case of SCA10 with Dystonia

S. Marmol, V. Armengol, D. Shpiner (Miami, USA)

A Rare Case Of Young Onset Ataxia: Spinocerebellar Ataxia Type 40

Y. Degirmenci (Istanbul, Turkey)

A study on the phenomenological analysis of Spinocerebellar Ataxia type 12 revealing a dystonic imprint

A. Mukherjee, S. Pandey (Faridabad, India)

Alterations in the Daily Living Gait and Mobility during the Day and Night among Individuals with Cerebellar Ataxia, SCA3: An Exploratory Study

P. Ponger, A. Solomon, M. Brozgol, E. Gazit, J. Hausdorff (Tel Aviv, Israel)

An Unusual and Treatable Cause of Cerebellar Ataxia and Dystonia: Homozygous COQ4 Gene Mutation

T. Coradine, M. Soares, P. Fraiman, L. Corazza, T. Silva, J. Pedroso, O. Barsottini (Sao Paulo, Brazil)

Assessment of Cerebellar Ataxia Severity in Patients with Posterior Cranial Fossa Tumors Using CASAS Scale

D. Khodjimetov (Tashkent, Uzbekistan)

Association of expanded CAG repeat with autonomic function in Spinocerebellar Ataxia Type-2 (SCA-2)

A. Sonakar, F. Faruq, A. Srivastava (NEW DELHI, India)

Ataxia and Gait Improvement in Relapsing-Remitting Multiple Sclerosis After Transcranial Magnetic Stimulation (TMS): A Case Study

NA. Megayasa, A. Tiksnadi, D. Tunjungsari (Jakarta Pusat, Indonesia)

Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report

H. Ngo Thi, T. Nguyen Anh (Hanoi, Viet Nam)

Ataxia, tremor, fasciculations and hemiparesis in a GBA1 heterozygous female carrier

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

Atypical spinocerebellar ataxia (SCA) type 16 as initial presenting migraine and mild ataxia with cerebellar atrophy

W. Yoon (Seoul, Republic of Korea)

Autosomal recessive cerebellar ataxias: a Tunisian cohort of 168 patients

L. Hlioui, R. Zouari, R. Amouri, MZ. Saied, D. Ben Mohamed, A. Rachdi, S. Ben Sassi (Tunis, Tunisia)

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.

H. Pacheco Mendoza, L. Nuñez Orozco, P. Briseño López, A. Negrete Gómez, J. Delgado Uriarte (Mexico, Mexico)

CANVAS and Sleep Disorder: a Prospective Cross-Sectional Study

A. Funcis, G. Dalla Zanna, S. Rossi, F. Madia, G. Silvestri, V. Brunetti (Rome, Italy)

CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy

R. Bove, A. Torella, G. Ricciardi, L. Pollini, M. Novelli, F. Pisani, V. Nigro, V. Leuzzi, S. Galosi (Rome, Italy)

Case Report of Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Ataxia

S. Park (Daejeon, Republic of Korea)

Clinical and Genetic Profile of Spinocerebellar Ataxias in a Tunisian Cohort

M S. Majoul, R. Zouari, A. Kalfat, R. Amouri, D. Ben Mohamed, M Z. Saied, F. Nabli, S. Ben Sassi (Tunis, Tunisia)

Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India

M. Chandarana, B. Tilva, A. Agarwal, D. Garg (Ahmedabad, India)

Dentate Deep Brain Stimulation for Cerebellar Ataxia: Long Term Outcomes

C. França, J. Diniz, I. Paraguay, D. de Andrade, V. Silva, R. Galhardoni, M. Teixeira, E. Barbosa, R. Cury (São Paulo, Brazil)

Diagnostic challenges with novel SCA variants: A case of STUB1 mutation

D. Vijaywargiya, A. Frank, T. Chabrashvili (Liverpool, USA)

Effects of Transpinal Magnetic Stimulation (TsMS) in Patients Diagnosed with Spinocerebellar Ataxia 3 (SCA 3)

K. Silveira Massruha, R. Bernhart Carra, J. Simões, G. Nunes Simões, J. Reis Menezes, V. Zanesi Maciel, M. Belo Silva, P. Medeiros Lacerda, T. Gonçalves Guimarães, E. Reis Barbosa, R. Gisbert Cury (São Paulo, Brazil)

Electrophysiological study of 122 Tunisian patients with autosomal recessive cerebellar ataxia

L. Hlioui, R. Zouari, R. Amouri, MZ. Saied, D. Ben Mohamed, A. Rachdi, S. Ben Sassi (Tunis, Tunisia)

Evaluating Pharmacological Interventions for Friedreich Ataxia: A Network Meta-Analysis of Randomised Trials

T. Dave, V. Kumar, R. Raj, MA. Shamim, V. Suresh, K. Patel, M. Hassan, A. Bhonsale, DVV. Krishna, B. Dhakal, A. Ambulinambi, D. Dey (Chernivtsi, Ukraine)

Expanding the Phenotype of a Novel Mutation in ELOVL4 and the Differential Diagnosis of the Hot Cross Bun Sign

G. Olmedo Saura, C. Pont Sunyer, I. Navalpotro Gomez, S. Bernal Noguera, B. Rodriguez Santiago, D. Guisado-Alonso, J. Pagonabarraga, C. García Sánchez, J. Kulisevsky, J. Perez Perez (Barcelona, Spain)

FGF14 repeat expansions: prevalence and case series of patients with SCA27B from Slovakia

M. Ostrozovicova, J. Necpal, D. Pellerin, H. Lee, O. Shabatiuk, K. Kulcsarova, A. Lackova, V. Roth, M. Wandzel, MJ. Dicaire, M. Danzi, V. Han, L. Trckova, S. Zuchner, M. Rizig, H. Houlden, C. Bonnet, M. Renaud, B. Brais, M. Skorvanek (Kosice, Slovakia)

Fixel Analysis of Diffusion Imaging in Cerebellar Tracts as a Quantitative Marker of Disease Progression in Spinocerebellar Ataxia

D. Arpin, S. Subramony, D. Vaillancourt, M. Burns (Gainesville, USA)

Friedreich’s ataxia: A descriptive study of a Tunisian cohort

L. Hlioui, R. Zouari, MZ. Saied, D. Ben Mohamed, A. Rachdi, R. Amouri, S. Ben Sassi (Tunis, Tunisia)

How does the PPP2R2B mutation alter neuronal cytoskeletal structure in SCA12

A. Ganguly, B. Reddy, J. Rungta, S. Choudhury, R. Pal, H. Kumar, S. Chattarji (Kolkata, India)

Increased Risk of Suicidal Ideation in Patients with Spinocerebellar Ataxias

C. Lin, L. Peppel, R. Lai, C. Rummey, P. Opal, J. Schmahmann, C. Gomez, H. Paulson, T. Zesiewicz, S. Perlman, G. Wilmot, S. Ying, C. Onyike, K. Bushara, M. Geschwind, K. Figueroa, S. Pulst, S. Subramony, A. Duquette, T. Ashizawa, A. Hamedani, M. Davis, S. Srinivasan, M. Burns, L. Moore, V. Shakkottai, L. Rosenthal, S. Kuo (Houston, USA)

iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening

B. Reddy, A. Gerutshang, R. Roy, R. Banerjee, S. Chowdhury, H. Kumar, S. Chattarji (Kolkata, India)

Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45

A. Richmond, M. Nashatizadeh, R. Townley (Columbia, USA)

Movement disorders secondary to neurocysticercosis: a case report from Bolivia

M. Jauregui, S. Silva, P. Chana-Cuevas, P. Salles (La Paz, Bolivia)

Neuropsychiatric Manifestations in Patients with Degenerative Cerebellar Ataxias from Serbia

A. Milovanovic, O. Tamaš, G. Marić, M. Janković, M. Kostić, B. Salak đokić, E. Stefanova, N. Dragašević Mišković (Belgrade, Serbia)

NGS diagnosis rate in a combined cerebellar ataxia and spastic paraplegia series from southern Spain

A. Adarmes Gómez, S. Jesús Maestre, D. Macias Garcia, F. Carrillo Garcia, L. Muñoz Delgado, P. Gómez Garre, P. Mir (Sevilla, Spain)

Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family

W. Trillo Alvarez, A. Escalante Mercado, D. Hito Cano, L. Delgado Villanueva, K. Choque Pereyra, E. Carrillo Monteagudo, P. Gonzales Romero (Arequipa, Peru)

Nonmotor symptoms in Spinocerebellar ataxia type 12 (SCA 12)

S. Choudhury, P. Basu, S. Mondal, R. Banerjee, J. Ganguly, M. Tiwari, H. Kumar (Kolkata, India)

Novel Partial Gene Deletion in CaCNA1A Presenting with Gait Ataxia, Vertigo, and Abnormal Eye Movements

D. Mohanty, I. Bledsoe (San Francisco, USA)

Oculomotor Biomarkers for Cerebellar Ataxia and Severity in Smooth Pursuit

P. Ponger, G. Gurevich, R. Alcalay, Y. Bonneh, S. Shani (Tel Aviv, Israel)

Opsoclonus after Covid-19 infection

F. Sakeff, A. Vilar (São Paulo, Brazil)

paraneoplastic cerebellar ataxia: a rare cause of late-onset ataxia

H. Boussaid, R. Zouari, D. Ben Mohamed, A. Rachdi, Z. Said, F. Nebli, S. Ben Sassi (monastir, Tunisia)

Phenotypic spectrum and natural history of POLR3A-associated spastic ataxia

E. Jung, J. Infante, S. Satolli, F. Santorelli, M. Minnerop, S. Klebe, B. Warrenburg, J. Muñoz, A. Fellner, J. de Winter, A. O'Connor, J. Baets, S. Murphy, M. Ruiz Sales, A. Pujol Onofre, L. Ruggiero, G. Coarelli, A. Dürr, X. Kobeleva, C. Stendel, T. Klopstock, F. Nicita, E. Bertini, Q. Thomas, Y. Goldberg, E. Kogan, L. Basel-Salmon, A. Lossos, Z. Argov, A. de Munain, L. Schöls, R. Schüle (Heidelberg, Germany)

Predicting Disease Severity in Friedreich’s Ataxia through Wearable Monitoring and Machine Learning.

R. Mishra, A. Sastre, A. Enriquez, V. Profeta, M. Wells, A. Vaziri, D. Lynch (Newton, USA)

Prevalence of Heterozygous ATP7B Mutation in Patients with Movement Symptoms

Y. Kim, D. Park, J. Yoon (Suwon, Republic of Korea)

Progressive Apraxia of Speech as a Presenting Symptom of Spinocerebellar Ataxia Type 2

A. Blazek, G. Meade, L. Jackson, R. Gavrilova, J. Stierwalt, J. Martinez-Thompson, J. Duffy, H. Clark, M. Machulda, J. Whitwell, K. Josephs, R. Utianski, H. Botha (Rochester, USA)

Progressive Cerebellar Ataxia as the Predominant Symptomatology of SGP-7 Compound Heterozygote Pathogenic Variants related HSP-7

D. Menghani, T. Yamasaki (Nicholasville, USA)

Progressive cerebellar ataxia in primary Sjögren’s syndrome: a case report

T. Nguyen, V. Le, K. Vo, T. Tran (Ho Chi Minh, Viet Nam)

Progressive Myoclonic Ataxia: Neuroinflammation and Autoantibodies Against Inhibitory Synapses and Herpes Viruses

D. Labunskiy, S. Kiryukhina, N. Kurgaev, V. Podsevatkin, V. Kolmykov (Saransk, Russian Federation)

Pulmonary Dysfunction in Friedreich’s Ataxia (FRDA)

T. Zesiewicz, T. Vu, A. Patel, T. Mcdonald, Y. Huang, Y. Zhao, L. Campbell, L. Evans, D. Mohan, C. Gooch, K. Calero (Tampa, USA)

Seminoma resulting in rapidly progressive cerebellar syndrome with associated dual positive kelch-like protein 11 (KLHL11) IgG and leucine zipper 4 (LUZP4)–immunoglobulin G (IgG) antibodies.

R. Orie, V. Suski, G. Quiroga-Garza, J. Linnoila (Pittsburgh, USA)

Spastic Ataxia Associated with Congenital Myasthenia Related to the VAMP1 Gene: Report of an Affected Family in Brazil.

J. Balbino, F. Kok, S. Camargos (Belo Horizonte, Brazil)

Spectrum of polysomnographic abnormalities in a cohort of sporadic late onset ataxia patients

A. Das, A. Jaryal, A. Srivastava (New Delhi, India)

Spinocerebellar Ataxia 34: ELOVL4 Recurrent Mutation in a Different Family

K. Makhoul, R. Ramdhani (Little Neck, USA)

Spinocerebellar ataxia type 2 (SCA2) and Seizures: Is There a Correlation?

P. Bhatia, S. Kaur (Phoenix, USA)

Spinocerebellar ataxia type 2 specific microRNAs may have an effect on neurodegeneration.

R. Singh, V. Swarup, I. Ahmad, V. Anand, I. Singh, M. Faruq, A. Srivastava (NEW DELHI, India)

Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.

S. Pulst (slc, USA)

Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female

P. Saroja Bylappa, D. Garg, P. Sharma, M. Faruq, A. Agarwal, A. Garg, A. Srivastava (New Delhi, India)

Substantia Nigra Degeneration In Spinocerebellar Ataxia 2 And 7 Using Neuromelanin-Sensitive Imaging

L. Chougar, G. Coarelli, FX. Lejeune, R. Gaurav, P. Ziegner, A. Durr, S. Lehéricy (PARIS, France)

Superficial siderosis; a case review

ANM. Afifi, L. Satke, E. čecháková (Olomouc, Czech Republic)

Syndrome of Progressive Ataxia with Palatal Tremors (PAPT) with Hypertrophied Bilateral Inferior Olives in a young Indian Female

P. Saroja Bylappa, D. Garg, A. Agarwal, A. Garg, A. Srivastava (New Delhi, India)

The first Indian patient with Hereditary Spastic Paraparesis type 42 due to a de novo SLC33A1 variant

A. Agarwal, P. Sharma, D. Garg, A. Garg, M. Faruq, A. Srivastava (New Delhi, India)

The Profile of Cerebellar Ataxia in Neurology Patients at National Tertiary Referral Hospital in Indonesia

I. Permatasari, A. Tiksnadi, D. Tunjungsari (Jakarta, Indonesia)

Transcranial Direct Current Stimulation and Neurofunctional Physical Therapy Improves Motor and Cognitive Symptoms in a Patient with Type 1 Spinocerebellar Ataxia – A Case Report

C. Bedeschi, P. Junior (Barueri, Brazil)

Tremulous Machado-Joseph Disease

V. Procaci, L. de Farias, S. da Costa, O. Barsottini, J. Pedroso (Sao Paulo, Brazil)

Two-year longitudinal evaluation of ataxia and brain structural changes in RFC1-related disorder

C. Lobo, T. Rezende, G. Schmitt, P. Matos, F. Lima, A. Martinez, O. Barsottini, JL. Pedroso, W. Marques Jr, M. França Jr (Campinas, Brazil)

Variant Ataxia Telangiectasia: A Novel ATM Gene Mutation With Disabling Tremor and Response to Deep Brain Stimulation

S. Giri Ravindran, A. Rajput, N. Noyes (Saskatoon, Canada)

Volatile solvent abuse and Cerebellar ataxia: A case series

J. Ganguly, S. Jha, N. Pandita, S. Mukherjee, N. Singh, H. Kumar (Kolkata, India)

When the Nephrologist calls… Ataxia, Seizures, and Hypokalemia – EAST syndrome and KCJN10 gene mutation

P. Fraiman, T. Coradine, M. Soares, I. Raslan, L. Gouvêa, L. Corazza, B. Massuyama, T. Silva, J. Pedroso, O. Barsottini (São Paulo, Brazil)

White Matter Tractography in Spinocerebellar Ataxia type 1 and 2 in comparison with Healthy Controls

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