2023 International Congress » Ataxia

Meeting: 2023 International Congress

“Speaking aids in neurodegenerative ataxia: how to deal with own disability”

C. Fernandes, I. Cunha, C. Gouveia, C. Rodrigues, F. Matias (Coimbra, Portugal)

A 78-year-old man with progressive ataxia, palatal tremor, parkinsonism and motor neuron disease.

P. Hoang, JR. Zuzuarregui (San Francisco, USA)

A case of progressive ataxia with palatal tremor (PAPT) syndrome due to idiopathic bilateral hypertrophic olivary degeneration

D. E, S. Kumar, A. Antony, J. Kumar (Kozhikode, India)

A novel missense variant in the TTBK2 gene in a north American family with late-onset cerebellar ataxia.

O. Halhouli, P. Natteru, T. Grider, C. Groth (Iowa City, USA)

An elderly female with subacute cerebellar ataxia: A case report

N. Pandey, A. Kumar, A. Ranjan (Patna, India)

Argentine Translation and Adaptation of the Scale for the Assessment and Classification of Ataxia (SARA)

J. Fernández Boccazzi, N. Gonzalez Rojas, M. Cesarini, G. da Prat, J. Etcheverry, E. Gatto (Buenos Aires, Argentina)

Association of Early and late age of onset with Mitochondrial DNA haplogroup in Indian Spinocerebellar Ataxia type- 2 patients.

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

atrophy of cranial nerves v and viii is a hallmark of rfc1-related disorder

C. Lobo, G. Wertheimer, T. Rezende, PC. Matos, L. Branco, J. Silva, F. Borba, O. Barsottini, JL. Pedroso, W. Marques Jr, M. França Jr (Campinas, Brazil)

Brain functional state mapping in resting state and network alteration in Spinocerebellar Ataxia Type 2 in comparison with healthy controls

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

Case report on heterozygous OPA3 gene mutation causing ataxia

J. Ng, T. Stiep (San Francisco, USA)

Cerebellar ataxia as primary manifestation of HIV: a rare etiological association

S. Jain, PN. Renjen, M. Gupta, P. Agarwal (Jaipur, India)

Cerebellar ataxia due to vitamin E deficiency

N. Stojiljkovic, S. Redko, F. Gupta, S. Kathiresu Nageshwaran, W. Tse (New York, USA)

cerebellar cognitive affective syndrome is frequent in rfc1-related disorder

C. Lobo, NB. Santos, F. Lima, T. Rezende, PC. Matos, JL. Pedroso, O. Barsottini, W. Marques Jr, M. França Jr (Campinas, Brazil)

Cerebellar volumetry in SCA1, SCA3, SCA6, MSA-C, and SAOA

M. Ferreira, T. Schaprian, T. Klockgether, J. Faber (Bonn, Germany)

Cervical Dystonic Tremor: A Characteristic Feature Of Ataxia With Vitamin E Deficiency

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

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia

S. Gorcenco, E. Kafantari, J. Wallenius, C. Karremo, E. Alinder, S. Dobloug, M. Landqvist Waldö, E. Englund, H. Ehrencrona, K. Wictorin, K. Karrman, A. Puschmann (Lund, Sweden)

Clinical spectrum, imaging characteristics and care giver burden assessment of early onset non-dominant progressive cerebellar ataxias

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

Cognitive flexibility associates with atrophy and disrupted connectivity of the cognitive cerebellum in degenerative cerebellar ataxia

JH. Shin, HJ. Kim, SY. Lee, WT. Yoon, SW. Park, SM. Park, D. Yoo, JY. Lee (Seoul, Republic of Korea)

Course of HIV-associated cerebellar ataxia on the background of antiretroviral therapy: clinical cases of 5 patients

L. Brsikyan, E. Nuzhnyi, е. Fedotova, S. Illarioshkin (Moscow, Russian Federation)

Description of a series of GAA-FGF14 ataxia / SCA27b patients

P. Iruzubieta, D. Pellerin, J. Ruiz, A. Bergareche, E. Mondragon, I. Albajar, J. Equiza, G. Nuñez, P. Arratibel, F. Moreno, J. Poza, M. Ruibal, R. Fernández-Torrón, A. Vinagre, I. Croitoru, M. Dicaire, B. Brais, H. Houlden, A. Lopez Munain (San Sebastián, Spain)

Diffuse cerebellar edema in acute anti-Yo positive paraneoplastic cerebellar degeneration: A case report

T. Dang, K. Vo, U. Ha, Q. Pham, C. Phan, T. Tran (HO CHI MINH, Viet Nam)

Diffusion Tensor Imaging of Spinocerebellar ataxia type 12 patients in comparison of Healthy control

AK. Srivastava, P. Pankaj, S. Kumaran, A. Garg, R. Agarwal, A. Nehra, F. Mohammad (New Delhi, India)

Disease progression of spinocerebellar ataxia types 1, 2, 3, and 6 before and after ataxia onset: a joint analysis of two longitudinal cohort studies

H. Jacobi, T. Schaprian, M. Schmid, T. Klockgether (Heidelberg, Germany)

Dopamine dysfunction in nigro-striatal pathway—multi-axial pathology in SCA 12

P. Basu, J. Ganguly, S. Pandey, S. Mukherjee, N. Singh, S. Choudhury, H. Kumar (Kolkata, India)

Early-onset spastic ataxia in a patient with prion (PRNP) p.Val180Ile mutation

SM. Lee, DY. Yoo, TB. Ahn (Seoul, Republic of Korea)

Effectiveness of non-invasive therapy of tPCS & peripheral nerve stimulation on Ataxia patients

D. Heng, C. Chen, X. Choi, E. Lim, G. Chia, W. Li, K. Narasimhalu, P. Kumar, Y. Lo, E. Tan (Singapore, Singapore)

Episodic ataxia type 2: a previously undescribed variant in the CACNA1A gene

N. Chunga, K. Minks, P. Morrison (Rochester, USA)

Expanding the clinical phenotype of ataxia associated with PMPCA mutations

E. Sanesteban Beceiro, A. Fernández Revuelta, R. García-Ramos, E. López Valdés, M. Fenollar Cortés, F. Alonso Frech (Madrid, Spain)

Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene

TL. Lee, CY. Chien, YT. Sun (Tainan, Taiwan)

FGF14 repeat expansions: Case series of adult-onset cerebellar ataxia patients from Serbia

A. Milovanović, NT. Dragašević Mišković, M. Borsche, A. Westenberger, N. Brueggemann, M. Svetel, I. Petrović, VS. Kostić, K. Lohmann (Belgrade, Serbia)

Fragile X Related Tremor in FMR1 Premutation Women without FXTAS

D. Hall, T. Svymbersky, J. O'Keefe, B. Ouyang, E. Berry-Kravis (Chicago, USA)

Frequency of SCA 2, 3 and 7 in Slovak patients with spinocerebellar ataxia – first report of SCA2 patient from Slovakia

M. Ostrozovicova, V. Turchetti, M. Rizig, J. Necpal, V. Han, Z. Gdovinova, H. Houlden, M. Skorvanek (Kosice, Slovakia)

Generalized chorea, cerebellar ataxia and spastic tetraparesis with a genetic mutation in FAT2 gene – coincidence or a new SCA45 phenotype?

M. Sequeira, D. Melancia (Lisboa, Portugal)

Genetic and phenotypic characterization of ATX-FAT2 (SCA45) in three Indian families

J. Ganguly, P. Basu, B. Mondal, H. Kumar (Kolkata, India)

Impact of dual tasking and sensory manipulation on balance in Fragile X-associated tremor/ataxia syndrome (FXTAS) and potential prodromal postural sway deficits in asymptomatic FMR1 premutation carriers

E. Timm, N. Cao, N. Purcell, B. Ouyang, Y. Liu, D. Hall, J. O'Keefe (Chicago, USA)

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

D. Pellerin, C. Wilke, A. Traschütz, S. Nagy, R. Currò, M-J. Dicaire, H. Garcia-Moreno, M. Anheim, T. Wirth, J. Faber, D. Timmann, C. Depienne, D. Rujescu, J. Gazulla, M. Reilly, P. Giunti, B. Brais, H. Houlden, L. Schöls, M. Strupp, A. Cortese, M. Synofzik (Montreal, Canada)

Isolated ZIC-4 antibody associated cerebellar dysfunction triggered by Tuberculosis

S. Garg, K. Shetty, S. Agrawal (Bengaluru, India)

Late Onset Cerebellar Ataxia in a Patient with a Heterozygous Pathogenic KIF1A Mutation: A Case Report

D. Sell, K. Minks, D. Sirica, P. Morrison (Rochester, USA)

Late onset cerebellar ataxia in patients treated with VIM DBS

C. Héraud, C. Alecu, D. Fontaine, A. Leplus, C. Giordana (NICE, France)

Learnings from inaugural year of foundation sponsored genetic counseling and testing program for Spinocerebellar Ataxia (SCA) types 1, 2, and 3

K. Trace, N. Beck, L. Moore (Minneapolis, USA)

Low serum vitamin E in a genetically confirmed Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

D. Al-Shorafat, K. Al-Hayk, M. Qawasmeh, W. Kamel, S. Bashayreh (Irbid, Jordan)

Network localization of limb ataxia

J. Pullinen, O. Liesmäki, O. Likitalo, A. Bellmunt Gil, J. Aaltonen, E. Mäkinen, E. Ellis, P. Ylikotila, J. Joutsa (Turku, Finland)

Neurotological evaluation on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas)

B. Leao, M. Severiano, G. Santos, H. Teive, M. José, B. Cavalcante-Leao, C. Araújo (Curitiba, Brazil)

Novel CACNA1A splice site variant associated with cerebellar ataxia and mild cognitive impairment; case report of Czech family.

A. Afifi, M. Nevrly, Z. Musova, P. Hedvicakova, K. Mensikova, P. Kanovsky (Olomouc, Czech Republic)

Oculomotor findings in paraneoplastic neurological syndromes with cerebellar ataxia

A. Milovanović, I. Basta, N. Kresojević, O. Tamaš, A. Tomić Pešić, I. Stanković Tutuš, M. Svetel, VS. Kostić, NT. Dragašević Mišković (Belgrade, Serbia)

Paraneoplastic cerebellar degeneration due to an anti-SOX 1 antibody manifesting as head tremors, without evidence of underlying malignancy

K. Sai Krishna, F. Mustafa, R K. Singh, A. Das, B. Mishra, A. Elavarsi, D. Vibha, M. Tripathy, S. Gaikwad (NEW DELHI, India)

POU4F1-related ataxia: phenotyping of a rare genetic ataxia.

D. Sugar, B. Webb, D. Hall (Chicago,, USA)

Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches

E. Jung, K. Manibarathi, I. Harting, S. Wolf, A. Aartsma-Rus, W. van Roon-Mom, M. Synofzik, H. Graessner, R. Schüle (Heidelberg, Germany)

Presence of neuropathy in most frequent hereditary cerebellar ataxia SCA1, SCA2 and FRDA in Serbian population

V. Marković, A. Milovanović, N. Mazalica, O. Tamaš, M. Ječmenica Lukić, A. Kačar, S. Perić, M. Svetel, VS. Kostić, NT. Dragašević Mišković (Belgrade, Serbia)

Rare genetic and clinical presentation of SPG7-related Hereditary Spastic Paraplegia.

J. Hickman, E. Forbes, J. Feuerstein (DENVER, USA)

Repetitive trans-spinal magnetic stimulation and kinesiotherapy could reduce motor and gait symptoms in patients with neurodegenerative ataxia?

C. Souza, L. Lopes, J. Oliveira, S. Casagrande, C. Tanaka, E. Barbosa, R. Cury (Sao Paulo, Brazil)

Spinocerebellar Ataxia Autosomal Recessive Type 10 Misdiagnosed as a Multiple System Atrophy Type C: a Case Report.

S. Gallo, M. Fabbri, F. Ory-Magne, O. Rascol (Toulouse, France)

Spontaneous intracranial hypotension presenting with progressive cerebellar ataxia and myelopathy

A. Cabral, A. Miranda, S. Casanova, F. Costa, M. Rodrigues, M. Branco (Gaia, Portugal)

Studies on mitochondrial dysfunction in the peripheral blood mononuclear cells in an ethnic Indian population of SCA 12 patients

S. Ansari, J. Rungta, R. Pal, S. Choudhury, R. Banerjee, S. Dey, H. Kumar (Kolkata, India)

Systemic and intracellular iron starvation response in Friedreich´s Ataxia

E. Indelicato, M. Amprosi, A. Eigentler, W. Nachbauer, D. Haschka, M. Grander, B. Henninger, C. Kremser, G. Weiss, S. Boesch (Innsbruck, Austria)

Targeted sequencing of regulatory regions shows potential SNVs affecting FXN gene expression in Friedreich’s ataxia patients

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