Webinar 1: Clinical scales for ataxia: current state and ongoing developments

Speakers: Thomas Klockgether (Bonn, Germany) - WG1: Clinical outcomes and registries

Tuesday, 11 July 2023, 3-4 pm CEST

There are a number of clinical scales that are currently used for assessment of ataxia, among them the Scale for the Assessment and Rating of Ataxia (SARA). Although these scales are widely used and have numerous advantages, they also have weaknesses. Critique of SARA concerns lack of anchoring in patient experience, questionable meaningfulness of single items and score changes, limited sensitivity to change, and variable scoring ranges of single items.

The webinar will present the current state of available ataxia scales and discuss options for development of new and modification of existing scales.

Slides

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Webinar 2: Deep-Learning in NeuroImaging

Speaker: Martin Reuter (DZNE Bonn, Germany) - WG3: MRI Biomarkers

Monday, 17 July 2023, 3-4 pm CEST

Increasing availability of medical imaging data with respect to quantity, resolution and modalities, pose challenges to traditional processing and analysis methods. Large cohort studies such as the ADNI, Human Connectome Project, UK Biobank, Rhineland study etc. collect rich data on 10-thousands of individuals. In order to investigate etiology, progression, treatment, risk and preserving factors of neurodegenerative diseases we need descriptive features, obtained by efficient automatic processing methods. Traditional approaches that depend on non-rigid atlas registration and segmentation, however, can take many hours up to a day for a single image, and are, thus, not efficient enough to handle big data or provide quick results.

We develop fast AI methods for large multimodal datasets using deep learning that can process images in minutes rather than hours. With FastSurfer we have introduced a method that can achieve full brain segmentation in under 1 minute, with extensions to fat segmentation in Dixon MRI, olfactory bulb segmentation as well as cerebellum and hypothalamus sub-segmentations. Furthermore, we push deep-learning method development beyond a fixed image grid in our recent multi-resolution FastSurferVINN approach and operate on geometric shapes (no image grid) for cortical parcellations. Furthermore, advanced deep-learning approaches can help speed-up diffusion MRI acquisition significantly at improved SNR - a first step towards moving high angular resolution dMRI into clinical applications.

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Webinar 3: Repeat-expansions in ataxias: direct sequencing, detection by short-read WES/WGS vs long-read WGS, and novel forms

Speakers: Matthis Synofzik (Tübingen, Germany), Stephan Zuchner (Miami, USA), Matt Danzi (Miami, USA), Brent Fogel (Los Angeles, USA), David Pellerin (London, UK) -  WG6: Next-generation genomics and platforms

Tuesday, 12 September 2023, 8-9 pm CEST

This webinar will focus on the genetics of coding and non-coding repeat expansions in ataxias. It will start with a short overview introduction into the different forms and their relative frequencies. The main focus will be on a presentation and comparative discussion of the different - and in particular the most recent - genetic sequencing strategies and their respective strengths and limitations to detect coding vs non-coding ataxia repeat expansions: direct repeat sequencing/fragment analysis, whole exome-sequencing (WES), short-read whole genome sequencing (SR-WGS), and long-read whole genome sequencing (LR-WGS). The webinar will be completed by presenting the most recently identified, novel forms of repeat expansions (RFC1, SCA27B) in more depth, including their genetic assessment methods, with both of them accounting for a substantial share of so far unexplained ataxia patients.

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Webinar 4: Quantitative Gait and Balance Outcomes for Ataxia Trials

Speakers: Fay Horak (Oregon Health and Science University, USA); Winfried Ilg (University of Tuebingen, Germany) - by WG4 Digital-motor biomarkers

Tuesday, 19 September 2023, 5-6pm CEST

With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid, finely granulated, digital health measures are highly warranted to augment clinical and patient-reported outcome measures. Gait and balance disturbances most often present as the first signs of degenerative cerebellar ataxia and are the most reported disabling features in disease progression. Thus, digital gait and balance measures constitute promising and relevant performance outcomes for interventional studies.
This presentation will review evidence for the sensitivity and validity of digital gait and balance measures to ataxia severity in cross-sectional and longitudinal studies, propose a consensus protocol for establishing gait and balance metrics in natural history studies and clinical trials, and discuss relevant issues for their use as performance outcomes in clinical trials.

Slides

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Webinar 5: Future projects for biomarker group

Speakers: Puneet Opal (Chicago, USA), Filippo Santorelli (Pisa, Italy) - WG2 Molecular biomarkers & biosampling

Tuesday, 30 January 2024, 5-6 pm CET

The webinar focused on overview on NFL use in inherited ataxias and on remote collection methodologies such as those using self sampling on DBS.