Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders
Qualitative and quantitative data demonstrate the reliability and responsiveness of the SARA score as a valid measure of neurological signs and symptoms in LSDs with CNS involvement, such as NPC and GM2 Gangliosidoses. A 1-point change represents a clinically meaningful transition reflecting the gain or loss of complex function.
Authors
- Laila Arash‐Kaps
- Susan B. Perlman (ORCID: https://orcid.org/0000-0002-0750-3802)
- Marianne Rohrbach (ORCID: https://orcid.org/0000-0002-4013-6012)
- Mario Manto (ORCID: https://orcid.org/0000-0001-6034-4380)
- Tomas Foltan
- Andreas Hahn (ORCID: https://orcid.org/0000-0003-0235-5211)
- Matthis Synofzik (ORCID: https://orcid.org/0000-0002-2280-7273)
- Stella Reichmannová (ORCID: https://orcid.org/0000-0002-3719-8650)
- Uma Ramaswami (ORCID: https://orcid.org/0000-0002-4703-7447)
- Miriam Kolníková (ORCID: https://orcid.org/0000-0002-9211-4456)
- Κyriakos Martakis (ORCID: https://orcid.org/0000-0003-3982-0914)
- Marc C. Patterson (ORCID: https://orcid.org/0000-0002-1116-126X)
- Pierre Wibawa (ORCID: https://orcid.org/0000-0002-7120-6984)
- Julien H. Park (ORCID: https://orcid.org/0000-0003-2305-9948)
- Aasef G. Shaikh (ORCID: https://orcid.org/0000-0002-4772-2823)
- Marion M. Brands (ORCID: https://orcid.org/0000-0002-2025-5997)
- Tatiana Brémovà-Ertl (ORCID: https://orcid.org/0000-0002-7397-045X)
- Matthias Gautschi (ORCID: https://orcid.org/0000-0003-1358-1759)
- Susanne A. Schneider (ORCID: https://orcid.org/0000-0001-7283-1995)
- Paul Gissen (ORCID: https://orcid.org/0000-0002-9712-6122)
- Siyamini Sivananthan (ORCID: https://orcid.org/0009-0008-2555-7282)
- Mark Walterfarng
- Simon Jones
Institutions
- University of Bern (CH)
- The Royal Melbourne Hospital (AU)
- University of California, Los Angeles (US)
- Royal Free London NHS Foundation Trust (GB)
- University of Cologne (DE)
- Justus-Liebig-Universität Gießen (DE)
- Charles University (CZ)
- University of Münster (DE)
- Great Ormond Street Hospital (GB)
- University Hospital of Bern (CH)
- University of Manchester (GB)
- University Hospital Münster (DE)
- Lysosomal and Rare Disorders Research and Treatment Center (US)
- University Children's Hospital Zurich (CH)
- Hertie Institute for Clinical Brain Research (DE)
- Mayo Clinic in Florida (US)
- Children's Center (US)
- Amsterdam University Medical Centers (NL)
- Grand Charleroi Hospital (BE)
- University Hospital Cologne (DE)
- University School (US)
- Royal Manchester Children's Hospital (GB)
- University College London (GB)
- Case Western Reserve University (US)
- Comenius University Bratislava (SK)
- University of Tübingen (DE)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2024-09-03
- DOI
- https://doi.org/10.1007/s00415-024-12664-y
- Citations
- 7
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.88
Funders
- Westfälische Wilhelms-Universität Münster