2019 International Congress » Ataxia

Date: Monday, September 23, 2019

Time: 1:45pm-3:15pm

Location: Les Muses, Level 3

Meeting: 2019 International Congress

1:45pm-3:15pm: A case of cerebellar ataxia caused by Pembrolizumab for Non-small cell lung cancer

T. Moto, H. Nagayama, K. Kimura (Tokyo, Japan)

1:45pm-3:15pm: A Case Presentation of Wilson’s Disease

D. Al Elwany, S. Ahmed, H. Deraz, C. Ragaey (Cairo, Egypt)

1:45pm-3:15pm: A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent

S. Das, S. Danda, M. Thomas, S. Yoganathan, V. Srivastava, S. Cleave A, A. Barney (Vellore, India)

1:45pm-3:15pm: A homozygous pentanucleotide repeat expansion in cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)

M. Gisatulin, V. Dobricic, Y. Hellenbroich, V. Tadic, A. Münchau, C. Zühlke, M. Bahlo, P. Lockhart, K. Lohmann, C. Helmchen, N. Brüggemann (Lübeck, Germany)

1:45pm-3:15pm: A Korean case of Fragile X-associated mild ataxia without tremor

WW. Lee, BK. Kim, O. Kwon, JM. Park, JJ. Lee, K. Kang (Seoul, Republic of Korea)

1:45pm-3:15pm: A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia

H. Houlden, M. Reilly, S. Zuchner, W. Marques, P. Fratta, A. Bronstein, A. Rossor, A. Rebelo, E. Buglo, N. Andrade, N. Wood, D. Kaski, S. Efthymiou, V. Salpietro, M. Versino, I. Callegari, D. Devigili, P. Tomaselli, E. Tribollet, M. Ilyas, J. Polke, P. Sivakumar, Z. Jaunmuktane, J. Humphrey, Y. Yan, H. Tariq, J. Vandrovcova, R. Sullivan, R. Simone, A. Cortese (London, United Kingdom)

1:45pm-3:15pm: A Robust and Rapid Method of PCR amplification To Confirm Triplet Repeat Disorders: Single-Step Blood Direct PCR

I. Singh, V. Swarup, S. Shakya, V. Goyal, A. Srivastava (New Delhi, India)

1:45pm-3:15pm: Abnormal Gait in Cerebrotendenious Xanthomatosis a case report

H. Amer, S. Ali, S. Sherif, S. El-Jaafary (Cairo, Egypt)

1:45pm-3:15pm: Alcohol- Induced Cerebellar Ataxia

B. Zeigelboim, H. Teive, C. Santos Junior, J. Malisky, M. da Rosa, R. Sampaio, M. José (Curitiba, Brazil)

1:45pm-3:15pm: Alignment of objective markers of speech with listener based judgements and disease severity in Friedreich ataxia

A. Vogel, A. Tsanas, H. Reece, L. Corben, G. Tai, M. Delatycki (Melbourne, Australia)

1:45pm-3:15pm: Another mitochondrial disease mimic: Two Case reports of adult riboflavin transporter deficiency (RTD) type 2 with muscle adenosine monophosphate (AMP) deaminase deficiency

L. Zhang, D. Thyagarajan (Melbourne, Australia)

1:45pm-3:15pm: Ataxia by Mutation in CACNA1A Gene – Case Series

P. Almeida, J. Pedroso, I. Brandi (Salvador, Brazil)

1:45pm-3:15pm: Ataxia with(out) oculomotor apraxia: A unique SETX mutation in 3 siblings

P. Khemani, A. Kuhlman, B. Bulica, N. Patel (Seattle, WA, USA)

1:45pm-3:15pm: Ataxin-2 gene in the Cuban population: Mutagenesis and epigenetic DNA methylation disease influencing phenotype

J. Laffita-Mesa, L. Velazquez Perez (Stockholm, Sweden)

1:45pm-3:15pm: Brain and spinal cord structural alterations in non-ataxic and ataxic SCA3 mutation carriers

J. Faber, I. Giordano, B. Koyak, R. Wolz, S. Romanzetti, MC. Franca Jr, H. Jiang, A. Durr, B. Bender, J. Diedrichsen, T. Klockgether (Bonn, Germany)

1:45pm-3:15pm: Brain MRI-based discrimination between multiple system atrophy type cerebellar from other late onset sporadic cerebellar ataxias: a prospective study with implications for diagnosis criteria

G. Carré, JL. Dietemann, O. Gebus, S. Montaut, O. Lagha-Boukbiza, T. Wirth, S. Kremer, IJ. Namer, M. Anheim, C. Tranchant (Strasbourg, France)

1:45pm-3:15pm: Cardiac involvement in AVED

S. Lucas-Delpozo, D. Moreno-Martínez, M. Tejero-Ambrosio, J. Hernández-Vara (Barcelona, Spain)

1:45pm-3:15pm: Cerebellar ataxia and cutaneous lesions: a clinical case

L. Azevedo Kauppila, P. Dias, C. Silva, A. Sousa, M. Rosa, L. Correia Guedes (Lisboa, Portugal)

1:45pm-3:15pm: Classification of spinocerebellar degeneration based on ratio of brainstem white matter to cerebellar gray matter by voxel-based morphometry

T. Taguchi, K. Nanri, H. Kato, H. Terashi, H. Aizawa (Tokyo, Japan)

1:45pm-3:15pm: Clinical and genetic heterogeneity in Indian subcontinent patients with Autosomal Dominant Spinocerebellar Ataxia 42

A. Mehta, M. Javali, P. R, K. Haskar, D. Gupta, P. Acharya, S. Srinivasa (Bengaluru, India)

1:45pm-3:15pm: Clinical and molecular features of a Chinese family with spinocerebellar ataxia type 6

H. Luan, A. Liu (Yantai, China)

1:45pm-3:15pm: Clinico-genetic correlation in 102 Spinocerebellar Ataxia Type 12 (SCA 12) patients

AK. Srivastava, A. Takkar, V. Goyal, F. Mohammad, R. Rajan, A. Garg (New Delhi, India)

1:45pm-3:15pm: Cockayne Syndrome manifesting as late adult onset cerebellar ataxia: expanding the phenotype

R. Chuang (Seattle, WA, USA)

1:45pm-3:15pm: Dentatorubral-Pallidoluysian Atrophy outside of Asia: A case report of the first Austrian family harbouring this rare mutation

M. Amprosi, W. Nachbauer, E. Indelicato, A. Eigentler, G. Puttinger, J. Gusenleitner, T. von Oertzen, S. Boesch (Innsbruck, Austria)

1:45pm-3:15pm: Epidemiological study of multiple system atrophy: data from HoRC-MSA Project 2014-2019

M. Matsushima, I. Yabe, K. Sakushima, I. Iwata, Y. Kanatani, N. Nishimoto, T. Matsuoka, T. Katayama, H. Uesugi, K. Sako, A. Takei, A. Tamakoshi, S. Shimohama, N. Sato, S. Kikuchi, H. Sasaki (Sapporo, Japan)

1:45pm-3:15pm: Evolution of ataxia in risk persons for spinocerebellar ataxia (SCA)

H. Jacobi, S. Tezenas Dumontcel, T. Klockgether, O. The-Risca-Investigators (Bonn, Germany)

1:45pm-3:15pm: Exergame training in Early Onset Ataxia patients

R. Brandsma, I. Ganzevoort, M. Berg, ZT. Dominguez Vega, LD. Jelsma, MM. Schoemaker, NM. Maurits, CJC. Lamoth, DA. Sival (Groningen, Netherlands)

1:45pm-3:15pm: Gait in Spinocerebellar Ataxia Type12 (SCA-12)

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

1:45pm-3:15pm: Genotype-Phenotype correlations of Episodic Ataxia (EA). MDSGene Systematic Review

A. Shetty, K. Nabieva, F. Zeldenrust, A. Rasheed, J. Huang, S. Petkovic, K. Lohmann, C. Klein, C. Marras, O. Waln (Lübeck, Germany)

1:45pm-3:15pm: Huntington’s Disease presenting as sporadic cerebellar ataxia

GLF. Franklin, FAN. Nascimento, GMP. Pavanelli, SSM. Milano, HAT. Teive, NSL. Lima, SR. Raskin (Curitiba, Brazil)

1:45pm-3:15pm: Identification of modifier genes related to G proteins pathways on the motor capacity of a Drosophila melanogaster model of Friedreich’s ataxia

EG. Zucchet, J. Gonzalez, P. Calap, P. Gonzalez Cabo, MD. Moltó Ruiz (Valencia, Spain)

1:45pm-3:15pm: Inpatient vs outpatient workup of patients with ataxia and suspected paraneoplastic cerebellar degeneration: Does work-up location matter?

N. Witek, M. Afshari, Y. Liu, B. Ouyang, D. Hall (Chicago, IL, USA)

1:45pm-3:15pm: Kinematic Gait Analysis in patients with ataxic disorders

D. Batra, A. Bhattacharya, A. Stezin, N. Kamble, P. Pal (Bengaluru, India)

1:45pm-3:15pm: Lower urinary tract symptoms and urodynamic findings in SCAs

M. Jang, H. Kim, B. Jeon, A. Kim (Jeonju, Republic of Korea)

1:45pm-3:15pm: Muscle Ultrasound Comparison between Early, Intermediate and Late Onset Friedreich’s Ataxia

R. Verbeek, A. Waalkens, M. Kuiper, C. Verschuuren-Bemelmans, J. Vd Hoeven, J. de Vries, J. van Gaalen, M. Willemsen, H. Kremer, K. Bürk, D. Sival (Groningen, Netherlands)

1:45pm-3:15pm: Need of next generation sequencing technology to de-convolute autosomal recessive cerebellar ataxias in India

S. Shakya, R. Kumari, A. Garg, A. Srivastava, M. Faruq (New Delhi, India)

1:45pm-3:15pm: Non-CpG methylation in the FXN gene in patients with Friedreich’s ataxia

E. Nuzhnyi, N. Abramycheva, M. Ershova, S. Klyushnikov, N. Nikolaeva, S. Illarioshkin, E. Fedotova (Moscow, Russian Federation)

1:45pm-3:15pm: Normative Reference for Timed Up and Go Test (TUG) in Young Indian Adults- Preliminary Results

D. Kaur, K. Umakant, T. Aziz, P. Jaiswal, M. Kumari, A. Gupta, G. Kumar (Patna, India)

1:45pm-3:15pm: Ocular Motor Findings in Spinocerebellar Ataxia Type 17

SU. Lee, JY. Choi, JM. Kim, JS. Kim (Seoul, Republic of Korea)

1:45pm-3:15pm: Onset symptoms and time to diagnosis in Friedreich´s Ataxia

E. Indelicato, W. Nachbauer, A. Eigentler, M. Amprosi, P. Giunti, C. Mariotti, J. Arpa, A. Dürr, T. Klopstock, L. Schöls, T. Klockgether, K. Bürk, M. Pandolfo, J. Schulz, S. Boesch (Innsbruck, Austria)

1:45pm-3:15pm: Opsoclonus-myoclonus-ataxia syndrome associated to rubella

BED. Ines, BRA. Zeineb, HAM. Salma, ZAO. Jamel, MRI. Ridha (Tunis, Tunisia)

1:45pm-3:15pm: Outcomes After Weighted Lumbosacral Orthosis (LSO) and Exercises in Patients with Progressive Cerebellar Ataxia

S. Mele (Philadelphia, PA, USA)

1:45pm-3:15pm: Paraneoplastic Cerebellar Degeneration As Initial Symptom Of Renal Cell Carcinoma

S. Souza, B. Oliveira, I. Sodré, A L. Oliveira, R. Oliveira, D. Terrana, M. Spitz (Rio de Janeiro, Brazil)

1:45pm-3:15pm: Phosphodiesterase inhibitors as a treatment for Friedreich’s ataxia

J. González-Fernández, E. Zucchet, P. Calap-Quintana, P. González Cabo, MD. Moltó Ruiz (València, Spain)

1:45pm-3:15pm: POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype

J. Infante, KM. Serrano, E. Marco-de Lucas, A. Sánchez-Rodríguez, J. Berciano, M. Corral, X. Farré, A. Matilla (Santander, Spain)

1:45pm-3:15pm: Polysomnographic features of Spinocerebellar Ataxia type 3 – a case report

DRC. Carneiro, IL. Luzeiro, ASM. Morgadinho (Coimbra, Portugal)

1:45pm-3:15pm: Prospective study of cognition in SCA2

T. Monte, E. Reckziegel, M. Augustin, O. Barsottini, JL. Pedroso, F. Vargas, ML. Saraiva-Pereira, V. Leotti, L. Jardim (Porto Alegre, Brazil)

1:45pm-3:15pm: Quantitative evaluation of gait ataxia of Multiple System Atrophy patients

C. Sato, S. Shirai, M. Matsushima, I. Yabe, H. Sasaki (Sapporo, Japan)

1:45pm-3:15pm: Research on the modifier gene of Hereditary spinocerebellar ataxia type 2

JLW. Wang, ZL. Liu (Changsha, China)

1:45pm-3:15pm: Respiratory Function and Functional Decline in Spinocerebellar Ataxia Type 2

N. Mello, M. Zonta, H. Teive, A. Meira, B. Zeigelboim (Curitiba, Brazil)

1:45pm-3:15pm: Sex-specific effect of ATXN2 rs7969300 polymorphism on age at onset in Spinocerebellar Ataxia type 2

L. Almaguer-Mederos, S. Gispert, D. Almaguer-Gotay, R. Aguilera-Rodríguez, Y. González-Zaldívar, Y. Vázquez-Mojena, D. Cuello-Almarales, D. Palenzuela, G. Auburger (Havana, Cuba)

1:45pm-3:15pm: Spinocerebellar ataxias in Southern Brazil: genotypic and phenotypic evaluation of 213 families

V. Rodrigues, F. Castilho Pelloso, A. Moro, S. Raskin, T. Ashizawa, F. Nascimento, C. Camargo, F. Germiniani, H. Teive (Curitiba, Brazil)

1:45pm-3:15pm: Spinocerebellar degeneration in Minami-Boso area of Japan – A hospital-based retrospective analysis

H. Shibayama, S. Akaike, K. Tajima, R. Takeuchi, F. Katada, S. Sato, T. Fukutaake, T. Matsukawa, H. Ishiura, S. Tsuji (Kamogawa, Japan)

1:45pm-3:15pm: Sporadic progressive ataxia and palatal tremor: A case report

Y. Liu, Y. Chen, Y. Chang (Kaohsiung City, Taiwan)

1:45pm-3:15pm: Study of eye movements as a tool in the diagnosis hereditary ataxias

D. Gasca Saldaña, Y. Sánchez Jimenez, MC. Boll (Mexico City, Mexico)

1:45pm-3:15pm: Supportive treatments for Ataxia, a Randomized Control Trial

MIA. Arain (Jamshoro, Pakistan)

1:45pm-3:15pm: Survival estimates for Spinocerebellar Ataxia type 2 based on age at onset and CAG repeats length

L. Almaguer-Mederos, R. Aguilera-Rodríguez, Y. González-Zaldívar, D. Almaguer-Gotay, D. Cuello-Almarales, Y. Vázquez-Mojena, L. Velásquez-Pérez (Holguín, Cuba)

1:45pm-3:15pm: The applicability of the Scale for Assessment and Rating of Ataxia (SARA) in toddlers

S. Polet, A. Tadema, S. Hbrahimgel, M. Vanden Berg, M. Kuiper, R. Brandsma, D. Sival (Groningen, Netherlands)

1:45pm-3:15pm: The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China

C. Zhao (Jinan, China)

1:45pm-3:15pm: The progression rate of sporadic adult-onset cerebellar ataxia : 1-year follow up study

PW. Ko, HW. Lee, K. Kang (Daegu, Republic of Korea)

1:45pm-3:15pm: The severity of motor dysfunctions and autonomic dysfunctions are not correlated in multiple system atrophy

T. Yamamoto, Y. Yamanaka, A. Sugiyama, S. Hirano, T. Uchiyama, M. Asahina, R. Sakakibara, S. Kuwabara (Chiba, Japan)

1:45pm-3:15pm: Think of Gluten Ataxia:A rare but potentially reversible cause of progressive neurological disorder

R. Mathur, K. Lal, A. Kyi (Grantham, United Kingdom)

1:45pm-3:15pm: Two heterozygous SNYE1 mutations presenting as spasmodic adductor dysphonia, task-specific jaw dystonia, generalized dystonia, and ataxia in a Jamaican man

E. Feinstein, P. Surathi (Newark, NJ, USA)

1:45pm-3:15pm: Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia

B. Bergmans, S. Donatello, M. Pandolfo, C. Depondt (Brugge, Belgium)

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