20th International Congress » Ataxia

12:00pm-1:30pm

A cross-sectional study in spinocerebellar ataxia type 12 (SCA-12) patients from a tertiary care center in Eastern India

S. Chatterjee, R. Banerjee, B. Mondal, M.U. Kulsum, K. Chatterjee, S.S. Jha, P. Chatterjee, S. Choudhury, S.S. Anand, H. Kumar (Kolkata, India)

12:00pm-1:30pm

A largest case series study of spinocerebellar ataxia type 2(SCA2) from India: Do SCA2 clinical subtypes exists?

A.K. Srivastava, A.K. Sonakar, S. Shakya, V. Suroliya, A. Takkar, I. Ahmad, R.K. Singh, I. Singh, D. Vibha, G. Shukla, V. Goyal, K. Prasad, A. Garg, M. Faruq (New Delhi, India)

12:00pm-1:30pm

A novel causal mutation for spinocerebellar ataxia 19/22 (SCA19)

C.M. Testa, V. Norris, J. Hoder, V. Hagood, R. Lewandowski, G.N. Tseng (Richmond, VA, USA)

12:00pm-1:30pm

A unique phenotype associated with anti-GAD antibodies

A.P. Mentreddi, S. Chitnis, P. Khemani (Dallas, TX, USA)

12:00pm-1:30pm

Abnormal findings in polisomnographic records of patients with spinocerebellar ataxia type 2 (SCA2)

A. Zanatta, A.C.d.S. Crippa, F.M.B. Germiniani, H.A.G. Teive (Curitiba, Brazil)

12:00pm-1:30pm

Acute cerebellar degeneration as the first manifestation of Sjögren syndrome: A case report

R. Maciel, S. Camargos, F. Cardoso (Belo Horizonte, Brazil)

12:00pm-1:30pm

Anti-GAD antibody cerebellar ataxia mimicking multiple system atrophy

J.B. Parmera, L.S.V. Schneider, R.G. Cury, M.M. Simabukuro, L.H.M. Castro, E.R. Barbosa (São Paulo, Brazil)

12:00pm-1:30pm

Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree

P. Bogdanova-Mihaylova, N. Austin, M.D. Alexander, L. Cassidy, S.M. Murphy, R.A. Walsh (Dublin, Ireland)

12:00pm-1:30pm

Biochemical evaluation in patients with suspected ataxia related to CoQ10 deficiency

J.L.H. Pedroso, F.G. Ravagnani, M.H. Barros, L.R. Sanches, F.R. Picosse, T.O. Lopes, P.C. Aguiar, M. Chiaratti, C.H. Macabelli, J.H. Arita, M.R. Masruha, O.G. Barsottini, C.C. Ferreiro-Barros (Sao Paulo, Brazil)

12:00pm-1:30pm

CAG repeats number of ATXN7 in SCA7 patients and normal population in Japan

Y. Adachi, R. Shimoyama (Matsue, Japan)

12:00pm-1:30pm

Can quantitative analysis of the “finger-to-nose test” discern between EOA and other conditions of coordination impairment?

O.E. Martinez Manzanera, T. Lawerman, D.A. Sival, N. Maurits (Groningen, Netherlands)

12:00pm-1:30pm

Cancer in Machado Joseph disease patients – Low frequency as a cause of death

L.B. Jardim, G.N. Souza, N. Kersting, T.A. Gonçalves, D. Pacheco, M.L. Saraiva-Pereira, J.A. Saute (Porto Alegre, Brazil)

12:00pm-1:30pm

Cerebellar ataxia and pregnancy

N. Hidarilak, T. Yacoubian (Birmingham, AL, USA)

12:00pm-1:30pm

Clinical and analytical validation of novel autosomal recessive ataxia mutations identified from whole exome sequencing

S. Shakya, R. Kumari, A.K. Srivastava, D. Dash, A. Takkar, I. Singh, A. Garg, M. Mukerji, M. Faruq (New Delhi, India)

12:00pm-1:30pm

Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample

T. Schmitz-Hübsch, S. Lux, A.U. Brandt, P. Bauer, E. Schlapakow, S. Greschus, H. Gärtner, M.E. Kirlangic, V. Gras, D. Timmann, M. Synofzik, N. Shah, L. Schöls, U. Kopp, T. Oberwahrenbrock, H. Zimmermann, C. Pfueller, E.M. Kadas, M. Rönnefarth, A. Grosch, M. Endres, T. Klockgether, K. Amunts, F. Paul, S. Doss, M. Minnerop (Berlin, Germany)

12:00pm-1:30pm

Clinico-genetic correlation in Indian spinocerebellar ataxia (SCA1) patients

A. Takkar, I. Ahmed, S. Shakya, V. Suroliya, R. Singh, A. Sonkar, A.K. Srivastava, M. Faruq (New Delhi, India)

12:00pm-1:30pm

Co-occurrence of two triplet repeat associated SCA mutations: A dilemma in clinical diagnosis, prognosis and genetic counselling and clinical significance

A.K. Srivastava, S. Shkaya, M. Faruq, V. Suroliya, V. Goyal, K. Prasad (New Delhi, India)

12:00pm-1:30pm

Comparison of mental practice and proprioceptive neuromuscular facilitation in sisters with cerebellar atrophy

C. Bedeschi, D. Guedes, D. Ambrosano (Barueri, Brazil)

12:00pm-1:30pm

Core set of measures of balance for people with multiple sclerosis and cerebellar ataxia

S.J. Winser, C.M. Smith, L.A. Hale, L.S. Claydon, S.L. Whitney, B. Klatt, J. Mottershead, I. Zaydan, R. Heyman, S. Winser (Dunedin, New Zealand)

12:00pm-1:30pm

Deep brain stimulation of the dentate nucleus improves ataxia and modulates cortical excitability

C.C. França, M.J. Teixeira, D. Ciampi de Andrade, R. Galhardoni, V.R. Barboza, V. Silva, G. Lepski, E.R. Barbosa, R.G. Cury (São Paulo, Brazil)

12:00pm-1:30pm

Depression and clinical progression in spinocerebellar ataxias

S.H. Kuo, R.Y. Lo, K.P. Figueroa, S.M. Pulst, S. Perlman, G. Wilmot, C. Gomez, J. Schmahmann, H. Paulson, V.G. Shakkottai, S. Ying, T. Zesiewicz, K. Bushara, M. Geschwind, G. Xia, T. Ashizawa, S.H. Subramony (New York, NY, USA)

12:00pm-1:30pm

Early clinical features of paraneoplastic cerebellar degeneration: Diagnostic outcomes of adult onset cerebellar ataxia

J. Zhang, Z. Xu, J.Y.H. Chai, L. Tan (Beijing, People's Republic of China)

12:00pm-1:30pm

Esophageal involvement in multiple system atrophy

T. Shimohata, H. Taniguchi, H. Nakayama, K. Hori, M. Inoue, M. Nishizawa (Niigata, Japan)

12:00pm-1:30pm

European pediatric normative values for the scale for assessment and rating of ataxia (SARA)

T.F. Lawerman, R. Brandsma, R.J. Lunsing, J.G.M. Burgerhof, D.A. Sival, On behalf of the Childhood Ataxia and Cerebellar Study Group of the European Pediatric Neurology Society, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic, G.E. Calabro, C.E. Catsman-Berrevoets, D. Craiu, B. Dan, A. Dica, T. Franciskovic, J. Gburek-Augustat, S. Grunt, H. Hartley, F. Kammoun, C. Kennedy, M.J. Kuiper, I. Lehman, A. Lustenberger, F. Mancini, M. Mirabelli-Badenier, E. Mulder-den Hartog, M. Steinlin, M. Synofzik, C.C. Triki, E.M. Valente, G. Vasco, A. Zekavica (Groningen, Netherlands)

12:00pm-1:30pm

Evaluating the effects of deep brain stimulation (DBS) in mice with spinocerebellar ataxia (SCA1)

V. Vedam-Mai, K. McFarland, Q. Zhang, H. Kim, R. Nathu, S. Kurtovic, K. Savery, T. Ashizawa, M.S. Okun (Gainesville, FL, USA)

12:00pm-1:30pm

Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6

T. Xie, D. Appelbaum, J. Bernard, M. Padmanaban, Y. Pu, C. Gomez (Chicago, IL, USA)

12:00pm-1:30pm

Fiberoptic endoscopic evaluation of swallowing findings in patients with Machado-Joseph disease

J.L. Pedroso, G.L.A. Diaféria, S.W. Park, L. Haddad, F.L.M. Haddad, O.P. Barsottini (São Paulo, Brazil)

12:00pm-1:30pm

Fragile X-associated tremor/ataxia syndrome in two female patients

L. Hvizdosova, M. Kaiserova, K. Mensikova, P. Kanovsky (Olomouc, Czech Republic)

12:00pm-1:30pm

GAA expansion with clinic/urodynamic findings in Friedreich’s ataxia with LUTS

P.N.S. Almeida, A.F.A. Musegante, U. Barroso (Salvador, Brazil)

12:00pm-1:30pm

Hereditary spastic paraplegia caused by heterozygous AFG3L2 and SPG7 mutations

C.D. Stephen, J.D. Schmahmann (Boston, MA, USA)

12:00pm-1:30pm

Impaired eye voice coordination in spinocerebellar degeneration while reading aloud

Y. Terao, S. Tokushige, S. Terada, T. Sasaki, M. Hamada, S. Tsuji, Y. Ugawa (Tokyo, Japan)

12:00pm-1:30pm

Iron accumulation and volume loss in the extrapyramidal motor system in Friedreich ataxia: The IMAGE-FRDA study

I. Harding, M. Delatycki, L. Corben, P. Raniga, M. Stagnitti, E. Storey, N. Georgiou-Karistianis, G. Egan (Melbourne, Australia)

12:00pm-1:30pm

Long-term impact of lead poisoning on neurologic function in children and adolescents

N.T. Boyd, M.J. Kuiper, R. Brandsma, T.F. Lawerman, R.J. Lunsing, F. Serrano, C. Olivera, D.A. Sival (Groningen, Netherlands)

12:00pm-1:30pm

Magnetic resonance imaging in spinocerebellar ataxias: A systematic review

J.A. Saute, E. Reckziegel, M.C. França Jr, T.J.R. Ribeiro, L.M. Vedolin, L.B. Jardim, A.A. Klaes (Porto Alegre, Brazil)

12:00pm-1:30pm

Modelling spinocerebellar ataxia 15 with iPS cell derived neurons

S. Wiethoff, C. Arber, S. Wray, Y. Zhi, R. Patani, H. Henry (London, United Kingdom)

12:00pm-1:30pm

Movement disorders are the common signs as the first neurological deficit in cases with spinocerebellar ataxia type 2 (SCA2)

N. Miyaue, R. Ando, T. Iwaki, H. Yabe, N. Nishikawa, M. Nagai, H. Takashima, M. Nomoto (Ehime, Toohn City, Japan)

12:00pm-1:30pm

Natural history of saccadic abnormalities in spinocerebellar ataxia 2: Implications to designing future clinical trials

R. Rodríguez-Labrada, L. Velázquez-Pérez, G. Auburger, U. Ziemann, Y. Vazquez-Mojena, N. Canales-Ochoa (Holguín, Germany)

12:00pm-1:30pm

Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)

T.L. Monte, C.L. Lucas, S. Amanda, R. Estela, A. Marina, M.L.S. Pereira, J.L. Pedroso, O. Barsotini, F.R. Vargas, P. Fernanda, R. Castilho, L.B. Jardim (Porto Alegre, Brazil)

12:00pm-1:30pm

Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

M. Schinwelski, M. Krygier, J. Slawek, M. Zuk, M. Rydzanicz, A. Walczak, P. Stawinski, A. Konkel, M. Sildatke-Bauer, R. Ploski, J. Limon (Gdansk, Poland)

12:00pm-1:30pm

Olfaction analysis in spinocerebellar ataxia type 10 and type 3 comparing with healthy controls and PD

M. Moscovich, A. Moro, R. Munhoz, H.G. Teive, L.S. Moryiama (Curitiba, Brazil)

12:00pm-1:30pm

Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease

J.A. Saute, S.N. Gabriele, C.B. Haas, V.R. Torrez, A.W. Brochier, G.V. Furtado, T.C. Gheno, A.D. Russo, T.L. Monte, A. Schumacher-Schuh, R. D´Avila, K.C. Donius, R.M. Castilhos, D.O. Souza, M.L. Saraiva-Pereira, V.L. Torman, S.A. Camey, C.R.M. Rieder, L.V.C. Portela, L.B. Jardim (Porto Alegre, Brazil)

12:00pm-1:30pm

Preliminary findings of MR imaging of the entire spinal cord in Friedreich’s ataxia

K. Reetz, S. Romanzetti, I. Dogan, M.L. Macel, D. Timmann, I.A. Giordano, T. Klockgether, J.B. Schulz (Aachen, Germany)

12:00pm-1:30pm

Prodromal criteria of spinocerebellar type 2: Lessons for physiopathology, natural history and therapeutical trials

L. Velázquez-Pérez, R. Rodríguez-Labrada, N. Canales-Ochoa, J. Fernandez-Ruiz, J. Medrano-Montero, Y. Vazquez-Mojena, G. Auburger, U. Ziemann (Holguín, Cuba)

12:00pm-1:30pm

Prolonged cerebellar syndrome after Legionnaire’s disease

B.R. Barton (Chicago, IL, USA)

12:00pm-1:30pm

Psychogenic movement disorder in cerebellar atrophy

P. Sommer, D. Földy, O. Khalifa, E. Fertl (Vienna, Austria)

12:00pm-1:30pm

Relationship between sensory augmentation and exercise routine in the improvement in balance and gait in a patient with lithium-induced ataxia

M.D. Maldonado (Santiago, Chile)

12:00pm-1:30pm

Repeat size and X-inactivation in the clinical phenotype of fragile X premutation carrier sisters: A familial case series

D.A. Hall, E. Robertson, J.A. O'Keefe, A.G. Hadd, L. Zhou, E. Berry-Kravis (Chicago, IL, USA)

12:00pm-1:30pm

Screening for SLC25A46 mutations in familial and sporadic ataxic patients

S. Efthymiou, C. Bettencourt, H. Houlden (London, United Kingdom)

12:00pm-1:30pm

Spinocerebellar ataxia 17: First observation in Russia

S.A. Klyushnikov, D.A. Prikhodko, N.Y. Abramycheva, M.Y. Krasnov, S.N. Illarioshkin (Moscow, Russia)

12:00pm-1:30pm

Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient

H.A.G. Teive, C.L. Boguszewski, S. Raskin, C. Buck, S.B. Seminara (Curitiba, Brazil)

12:00pm-1:30pm

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations

S.N. Hayer, K. Smets, B. Bender, T. Deconinck, S. Züchner, L. Schöls, R. Schüle, P. De Jonghe, J. Baets, M. Synofzik (Tübingen, Germany)

12:00pm-1:30pm

Sub-acute rapidly progressive cerebellar ataxia – A case of JC virus associated granule cell neuronopathy (GCN)

V.K. Palmadottir, J.A. Gold, N. Vora, C.W. Kilbane (Stanford, CA, USA)

12:00pm-1:30pm

Testing candidate transcriptional biomarkers of asymtpomatic and symptomatic stages in spinocerebellar ataxia type 3 (SCA3)

M. Raposo, C. Bettencourt, M. Lima (Ponta Delgada, Portugal)

12:00pm-1:30pm

The aetiology of idiopathic late onset cerebellar ataxia

R. Barbosa, M. Mendonça, T. Lampreia, P. Bugalho (Lisboa, Portugal)

12:00pm-1:30pm

The scale for assessment and rating of ataxia in early onset ataxia; always a reliable biomarker?

R. Brandsma, T.F. Lawerman, M.J. Kuiper, I.J. Lunsing, H. Burger, D.A. Sival (Groningen, Netherlands)