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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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