Journal Article

DZNE-2026-00168

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.

Lischewski, S. A. ; Dogan, I. ; Giunti, P. ; Parkinson, M. H. ; Mariotti, C. ; Durr, A. ; Ewenczyk, C. ; Boesch, S. ; Nachbauer, W. ; Klopstock, T.DZNE* ; Stendel, C.DZNE* ; de Rivera Garrido, F. J. R. ; Schöls, L.DZNE* ; Fleszar, Z.Extern* ; Klockgether, T.DZNE* ; Grobe-Einsler, M.DZNE* ; Giordano, I.Extern* ; Rai, M. ; Pandolfo, M. ; Jacobi, H. ; Hilgers, R.-D. ; Schulz, J. B. ; Reetz, K. ; Group, E. S. (Collaboration Author) ; Indelicato, E. (Contributor) ; Amprosi, M. (Contributor) ; Gellera, C. (Contributor) ; Mongelli, A. (Contributor) ; Castaldo, A. (Contributor) ; Fichera, M. (Contributor) ; Bertini, E. (Contributor) ; Vasco, G. (Contributor) ; Biet, M. (Contributor) ; Monin, M. L. (Contributor) ; Holtbernd, F. (Contributor) ; Brcina, N. (Contributor) ; Hohenfeld, C. (Contributor) ; Radelfahr, F. (Contributor) ; Bischoff, A. (Contributor)Extern* ; Hayer, S. (Contributor)Extern* ; Koutsis, G. (Contributor) ; Breza, M. (Contributor) ; Palau, F. (Contributor) ; O'Callaghan, M. (Contributor) ; Thomas-Black, G. (Contributor) ; Manso, K. (Contributor) ; Solanky, N. (Contributor) ; Labrum, R. (Contributor)

2026
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/mds.70084

Abstract: Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non-ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non-Ataxia Signs (INAS) is a symptom list transformable to a 16-item count.To evaluate the responsiveness of a modified INAS in this population.Participants were drawn from the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). The modified INAS count (presence/absence, 0-16 scale) and modified INAS sum (severity-weighted, 0-84 scale) were evaluated using linear mixed-models and standardized response means (SRMs). Items rare (<5%) and uncharacteristic in Friedreich's ataxia were excluded (chorea, myoclonus, fasciculations, resting tremor, rigidity) RESULTS: A total of 1129 participants (mean age, 32.3 years) were assessed for up to 12 years. The mean modified INAS count was 4.6 (±2.2) and modified INAS sum 15.1 (± 9.9). Both correlated strongly with existing outcome measures. Longitudinally, the modified INAS count increased by 0.13 points/year (95% CI 0.12, 0.14; P < 0.001) and modified INAS sum by 0.68 points/year (95% CI 0.64, 0.72; P < 0.001). The modified INAS sum demonstrated greater responsiveness, with SRMs of 0.26, 0.38, 0.53, and 0.80 at 1, 2, 3, and 5 years, respectively, compared with 0.16, 0.27, 0.31, and 0.46 for the modified INAS count. In non-ambulatory patients and children, responsiveness of the modified INAS sum was higher (SRM 0.82 and 1.7 at 5 years, respectively).The modified INAS sum showed good responsiveness over 5 years but not over 1-3 years. It may supplement existing outcome measures, contributing to holistic assessment of this multisystem disease, especially in non-ambulatory patients, in whom ataxia-focused measures may show ceiling effects, and children, who typically progress faster. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyword(s): Humans (MeSH) ; Friedreich Ataxia: diagnosis (MeSH) ; Friedreich Ataxia: physiopathology (MeSH) ; Friedreich Ataxia: complications (MeSH) ; Male (MeSH) ; Female (MeSH) ; Adult (MeSH) ; Middle Aged (MeSH) ; Young Adult (MeSH) ; Severity of Illness Index (MeSH) ; Adolescent (MeSH) ; Child (MeSH) ; Friedreich's ataxia ; longitudinal ; non‐ataxia symptoms

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Contributing Institute(s):

1. Clinical Research (Munich) (Clinical Research (Munich))
2. Clinical Research Coordination (Clinical Research (Bonn))
3. Clinical Neurogenetics (AG Schöls)
4. Patient Studies (Bonn) (Patient Studies (Bonn))

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

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Database coverage:
; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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