SCA & ARCA Global Conference 2020 – Abstracts

Abstracts

We have selected 24 abstracts to be presented as Flash Talks (5 minutes pre-recorded presentations) during the conference. Participants will have the chance to meet the speakers in virtual coffee rooms in the following breaks. All abstracts will be published in the conference brochure. The best four presentations will be awarded!

Here are the 24 selected abstracts:

"Natural history and phenotypic spectrum of multisystemic RFC1-disease: a first large cohort study, and a novel multicenter longitudinal natural history study”, Andreas Traschütz from Tübingen, Germany.

“Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia in the longitudinal RISCA study”, Heike Jacobi from Heidelberg, Germany.

“A new tool for prompt and comprehensive visualization and comparison of cohort characteristics in spinocerebellar ataxias”, Mischa Uebachs from Bonn, Germany.

“Linear progression of SARA scores in SCA 1, 2, 3 and 6 patients across countries”, Emilien Petit from Paris, France.

“Natural history of polymerase gamma related ataxia”, Friedemann Bender from Tübingen, Germany.

“Validation of a German version of the Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale: study protocol and preliminary results”, Andreas Thieme from Essen, Germany.

“Allele-specific AAV-based silencing of mutant ataxin-3 alleviates neuropathology and motor deficits in spinocerebellar ataxia type 3” , Luis Pereira de Almeida from Coimbra, Portugal.

“A pharmacological treatment acting on calcium homeostasis improves motor ability and delays Purkinje cell loss in the ARSACS mouse model”, Francesca Maltecca from Milan, Italy.

“Association of serum neurofilament light (sNfL) and disease severity in patients with spinocerebellar ataxia type 3, Hong Jiang from Changsha, Hunan, China.

“PolyQ-expanded ataxin-3: a potential target engagement marker for SCA3 in peripheral blood”, Jeannette Hübener-Schmid from Tübingen, Germany.

“Combined transgene and intron-derived miRNA therapy for the treatment of SCA1”, Ellie Carrell from Philadelphia, USA.

“CRISPR/Cas9-based gene knockout in Spinocerebellar Ataxia type 1 (SCA1)”, Mariangela Pappadà from Ferrara, Italy.

“Validation of hSARA and first data from home-application”, Marcus Grobe-Einsler from Bonn, Germany.

“Quantifying Ataxia-Related Motor Impairments in Ataxic Rodents and Humans Using Markerless Video Tracking With Deep Neural Networks”, Jana Lang from Tübingen, Germany.

“Clinical scales and vestibulo-ocular reflex show changes in time since pre-clinical stages in Machado-Joseph disease/ spinocerebellar ataxia type 3 (BIGPRO Study)”, Camila Maria de Oliveira from Porto Alegre, Brazil.

“Gait Laboratory in a Box: Objective gait assessment via smartphone analysis”, Andrea H. Németh from Oxford, UK.

“Cross-sectional and longitudinal assessment of the structural alterations in pre-ataxic and ataxic Spinocerebellar Ataxia Type 3 (SCA3)", Jennifer Faber from Bonn, Germany.

“Whole-exome sequencing identifies novel Machado-Joseph disease-modifying genes and pathways” (abstract number 52), Mafalda Raposo from Porto, Portugal.

“Mechanism of conserved ancestral haplotype in SCA10”, Tetsuo Ashizawa from Houston, USA.

“A DNAzyme that cleaves CAG repeat RNA in polyglutamine diseases”, Nan Zhang.

“Ataxin-1 is signalled to DNA damage by ATM kinase”, Celeste Suart from Houston, USA.

“Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression”, Georg Auburger from Frankfurt M., Germany.

“JNK inhibitor ameliorates the SCA1 phenotype by inhibiting Bergmann glial inflammation”, Chandrakath R Edamakanti from Chicago, USA.

“Dentatorubral-pallidoluysian atrophy (DRPLA): development of an ASO therapy and understanding the impact of ATN1 CAG expansion”, Joanna A. Korecka from Boston, USA.