MDS Virtual Congress 2020 » Ataxia

A. Sánchez-Rodríguez, I. González-Aramburu, M. Sierra, A.L Pelayo-Negro, M. Corral-Juan, X. Farré, I. Sánchez, A. Matilla-Dueñas, J. Infante (Santander, Spain)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: A Mexican case report

D. Gasca Saldaña, M. Boll-Woehrlen, D. Dávila-Ortiz, C. Alaez-Verson, L. Flores Dominguez, P. Zamora Alaniz, C. Molina-Garay, C. Dehesa, M. Jiménez, K. Carrillo Sánchez, A. Vega-Rosas (Mexico City, Mexico)

Axial myoclonus and cerebellar ataxia in a patient with mutation in ADCK3

M. Gultekin (Kayseri, Turkey)

CAPN1 mutations are more common than expected in patients with hereditary spastic paraparesis

G. Baille, A. Degardin, I. Strubi-Vuillaume, C. Tard (Lille, France)

Characterization of ataxia in Sjogren’s syndrome

C. Jaques, M. de Moraes, E. Silva, A. Coimbra Neto, G. Franklin, A. Martinez, S. Camargos, F. Cardoso, M. França Junior, A. Nucci, H. Teive, J. Pedroso, O. Barsottini (São Paulo, Brazil)

Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation

I. Singh, I. Ahmed, S. Shaykya, A. Srivastava (New Delhi, India)

Clinical characterization and disease progression in spinocerebellar ataxia type 35: A case series

C. Lin, S. Kuo (New York, NY, USA)

Clinical correlation with the Genotype of Friedreich’s Ataxia (FRDA) patients in Indian population

A.K Srivastava, I. Ahmad, P. Sharma, M. Seth, U. Shamim, I. Singh, R. Rajan, M.P Srivastava, F. Mohammad (New Delhi, India)

Clinical features of impaired communication in patients with multiple system atrophy

T. Shimohata, M. Yamada, M. Hotta, Y. Ohno, H. Shibata, M. Yasunishi, Y. Suzuki, Y. Hayashi, A. Kimura (Aichi, Japan)

Concurrent SCA3 and SCA10 in a young man with ataxia and prominent dystonia

A. Badiei, R. Saunders-Pullman, I. Bledsoe (San Francisco, CA, USA)

Detecting Lower Extremity Ataxia: Toe-Heel Tap is the Best Screening Tool

E. Smith, D. Whitney, D. Bhatti, A. Hellman, D.J Bertoni, D. Torres-Russotto (Omaha, NE, USA)

Downbeat nystagmus and progressive ataxia mimicking a neurodegenerative disease: a specific phenotype of Chiari malformation

B. Massuyama, F. Filho, J. Pedroso, O. Barsottini (Sao Paulo, Brazil)

Effect of repetitive transcranial magnetic stimulation with intensive physical therapy in cerebellar ataxia: A pilot study

J.H. Ahn, J. Song, M. Kim, J.K. Mun, J.S. Kim, J.W. Cho, W.H. Chang, J. Youn (Seoul, Republic of Korea)

Effects of deep transcranial magnetic stimulation of the cerebellum on cerebellar ataxias: A randomized, double-blind, cross-over clinical trial

C. França, D. de Andrade, V. Silva, R. Galhardoni, E. Barbosa, M. Teixeira, R. Cury (Sao Paulo, Brazil)

GAD65 antibody neurologic syndrome presenting with hemiparkinsonism

R. Patel, N. Witek, P. Pinna, M. Afshari (Chicago, IL, USA)

Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity

R. Moganty, D. Pathak, A. srivastava, s. Gulati (New Delhi, India)

Gerstmann-Sträussler-Scheinker disease presenting as a late onset slowly progressive spinocerebellar ataxia: expanding the phenotypic spectrum of genetic prion disease

C. Stephen, J. Chen, B. Appleby, T. Prior, M. Frosch, J. Schmahmann (Boston, MA, USA)

Modeling Cerebellar Limb Dysmetria and Impaired Spatial Memory in Rats Using Lamivudine: A preliminary study

E. Akang, O. Dosumu, S. Afolayan, R. Agumah, A. Oremosu, A. Akanmu (Lagos, Nigeria)

New pathogenic mutation in the Niemann-Pick C (NPC) Type 1 gene: Confirmation by diagnostic workup of NPC in a 41-year-old woman with idiopathic late onset cerebellar ataxia (ILOCA)

G. Crotty, J.Y Chen, D. Brockman, J. Schmahmann (Boston, MA, USA)

Novel Dentato-Olivo-Luysian Atrophy in a Greek Family

S. Alshimemeri, K. Yoshida, N. Visanji, E. Rogaeva, R. Munhoz, E. Slow, A. Lang, G. Kovacs (Toronto, ON, Canada)

Novel KCND3 mutation associated with paroxysmal motor exacerbations in spinocerebellar ataxia 19

M. Paucar, R. Ågren, T. Li, S. Lissmats, Å. Bergendal, I. Savitcheva, D. Nilsson, K. Sahlholm, P. Svenningsson, J. Nilsson (Stockholm, Sweden)

Novel Mutation in the Protein Kinase C Gamma Gene Causing Spinocerebellar Ataxia-14 in a Large Family

J. Lahrmann, M. Dagostine, D. Machado (Cheshire, CT, USA)

Novel Recessive Mitochondrial Mutations Causing Leigh’s Syndrome and Movement Disorders

B. Barton, C. Toro (Chicago, IL, USA)

Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology

H. Garcia-Moreno, G. Thomas-Black, A. Heslegrave, H. Zetterberg, P. Giunti (London, United Kingdom)

Prevalence and Clinical Profile of Common Spinocerebellar Ataxia in Malaysia

L.U Lau, M.D Hajar, Y.S Yakob, M.D Ibrahim (Kuala Lumpur, Malaysia)

Reclassification of variant c.5825C>T and clinical evidence of variant c.3955_3958dup in a Peruvian family with ATM syndrome

M. Cornejo-Olivas, R. Rodriguez, J. Bazalar-Montoya, E. Sarapura-Castro, M. Torres-Loarte, A.A Rivera-Valdivia, Y. Sullcahuaman-Allende (Lima, Peru)