Category: Ataxia
Objective: Our aim was to survey the natural history of sporadic degenerative ataxia and analyze the long-term disease progression. Furthermore, we wanted to examine and characterize possible imaging and biofluid markers and their meaning regarding disease severity and clinical conversion to MSA-C.
Background: Sporadic degenerative ataxias are the most common type of ataxia in adult age. They can be subdivided into two major groups: multiple system atrophy of cerebellar type (MSA-C), which is characterized by the presence of severe autonomic failure, and sporadic adult onset ataxia of unknown etiology (SAOA). In early disease stages a distinction between MSA-C and SAOA is often challenging.
Method: SPORTAX is a European registry of patients with sporadic degenerative ataxia and an age of onset >40 years. Genetic and acquired causes of ataxia are excluded. Standardized clinical assessments include the Scale for the Assessment and Rating of Ataxia (SARA), the Unified MSA Rating Scale (UMSARS) and the Inventory of Non-Ataxia Signs (INAS) to measure disease severity. Further, quality of life and depressive symptoms were assessed. Biosamples and magnetic resonance images (MRI) were obtained in a subgroup, allowing the measurement of neurofilament light chain (NfL) in serum as well as pontine and cerebellar volume.
Results: Data of 902 visits in 426 participants were analyzed. At baseline, 136 participants met criteria of probable MSA-C. 27 participants, who had been classified as SAOA at baseline, converted to MSA-C during follow-up. Compared to patients with SAOA at baseline, MSA-C patients had higher SARA (16.6±6.2 vs. 12.2±5.3), UMSARS-I (203±8.3 vs. 10.7±6.1) and UMSARS-II (21.5±8.3 vs. 15.3±7.0) scores, although disease duration was shorter (5.3±4.4 vs. 7.1±5.6 years). Annual SARA progression was faster in MSA-C (3.6±3.0 vs. 1.1±2.4). Progression rate of converters was comparable to that of MSA-C patients (3.5±2.8). Fulfilled criteria of possible MSA-C at baseline had a negative predictive value of 83%. Serum NfL concentration were higher in MSA-C than in SAOA (30.3pg/ml (17.2–41.6) vs. 16.4pg/ml (11.9–22.8)). Pontine volume was smaller in MSA-C than in SAOA (8.6cm³ vs 12.8cm³).
Conclusion: Our study provides quantitative data on the clinical phenotype and progression of sporadic degenerative ataxia. Serum NfL and pontine volume are candidates for validation as diagnostic and progression biomarker.
To cite this abstract in AMA style:
D. önder, C. Wilke, J. Faber, T. Schaprian, I. Giordano, M. Grobe-Einsler, L. Schöls, S. Vielhaber, J. Machts, C. Kamm, A. Dudesek, T. Klopstock, C. Stendel, D. Timmann-Braun, S. Boesch, A. Eigentler, B. van Dewarrenburg, J. van Gaalen, C. Tallaksen, I. Wedding, A. Filla, G. Silvestri, M. Masciullo, C. Ganos, J. Kang, D. Sarah, M. Synofzik, T. Klockgether. Clinical phenotype and biomarkers in sporadic degenerative ataxia: longitudinal data from the SPORTAX registry [abstract]. Mov Disord. 2021; 36 (suppl 1). https://www.mdsabstracts.org/abstract/clinical-phenotype-and-biomarkers-in-sporadic-degenerative-ataxia-longitudinal-data-from-the-sportax-registry/. Accessed June 15, 2025.« Back to MDS Virtual Congress 2021
MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-phenotype-and-biomarkers-in-sporadic-degenerative-ataxia-longitudinal-data-from-the-sportax-registry/