An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
Background: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Spastic Paraplegia Type 7 (SPG7) are paradigmatic spastic ataxias (SPAX) with suggested white matter (WM) involvement. Aim of this work was to thoroughly disentangle the degree of WM involvement in these conditions, e...
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| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
16 June 2024
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| In: |
Journal of neurology
Year: 2024, Volume: 271, Issue: 8, Pages: 5468-5477 |
| ISSN: | 1432-1459 |
| DOI: | 10.1007/s00415-024-12505-y |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00415-024-12505-y
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| Author Notes: | Alessandra Scaravilli, Ilaria Gabusi, Gaia Mari, Matteo Battocchio, Sara Bosticardo, Simona Schiavi, Benjamin Bender, Christoph Kessler, Bernard Brais, Roberta La Piana, Bart P. van de Warrenburg, Mirco Cosottini, Dagmar Timmann, PROSPAX Consortium, Alessandro Daducci, Rebecca Schüle, Matthis Synofzik, Filippo Maria Santorelli, Sirio Cocozza |
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| 100 | 1 | |a Scaravilli, Alessandra |e VerfasserIn |0 (DE-588)1349746444 |0 (DE-627)1909899305 |4 aut | |
| 245 | 1 | 3 | |a An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia |b results from the multi-center PROSPAX study |c Alessandra Scaravilli, Ilaria Gabusi, Gaia Mari, Matteo Battocchio, Sara Bosticardo, Simona Schiavi, Benjamin Bender, Christoph Kessler, Bernard Brais, Roberta La Piana, Bart P. van de Warrenburg, Mirco Cosottini, Dagmar Timmann, PROSPAX Consortium, Alessandro Daducci, Rebecca Schüle, Matthis Synofzik, Filippo Maria Santorelli, Sirio Cocozza |
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| 520 | |a Background: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Spastic Paraplegia Type 7 (SPG7) are paradigmatic spastic ataxias (SPAX) with suggested white matter (WM) involvement. Aim of this work was to thoroughly disentangle the degree of WM involvement in these conditions, evaluating both macrostructure and microstructure via the analysis of diffusion MRI (dMRI) data. Material and methods: In this multi-center prospective study, ARSACS and SPG7 patients and Healthy Controls (HC) were enrolled, all undergoing a standardized dMRI protocol and a clinimetrics evaluation including the Scale for the Assessment and Rating of Ataxia (SARA). Differences in terms of WM volume or global microstructural WM metrics were probed, as well as the possible occurrence of a spatially defined microstructural WM involvement via voxel-wise analyses, and its correlation with patients’ clinical status. Results: Data of 37 ARSACS (M/F = 21/16; 33.4 ± 12.4 years), 37 SPG7 (M/F = 24/13; 55.7 ± 10.7 years), and 29 HC (M/F = 13/16; 42.1 ± 17.2 years) were analyzed. While in SPG7, only a mild mean microstructural damage was found compared to HC, ARSACS patients present a severe WM involvement, with a reduced global volume (p < 0.001), an alteration of all microstructural metrics (all with p < 0.001), without a spatially defined pattern of damage but with a prominent involvement of commissural fibers. Finally, in ARSACS, a correlation between microstructural damage and SARA scores was found (p = 0.004). Conclusion: In ARSACS, but not SPG7 patients, we observed a complex and multi-faced involvement of brain WM, with a clinically meaningful widespread loss of axonal and dendritic integrity, secondary demyelination and, overall, a reduction in cellularity and volume. | ||
| 650 | 4 | |a ARSACS | |
| 650 | 4 | |a Ataxia | |
| 650 | 4 | |a Diffusion tensor imaging | |
| 650 | 4 | |a Magnetic resonance imaging | |
| 650 | 4 | |a SPG7 | |
| 700 | 1 | |a Gabusi, Ilaria |e VerfasserIn |4 aut | |
| 700 | 1 | |a Mari, Gaia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Battocchio, Matteo |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bosticardo, Sara |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schiavi, Simona |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bender, Benjamin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kessler, Christoph |e VerfasserIn |4 aut | |
| 700 | 1 | |a Brais, Bernard |e VerfasserIn |4 aut | |
| 700 | 1 | |a La Piana, Roberta |e VerfasserIn |4 aut | |
| 700 | 1 | |a van de Warrenburg, Bart P. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Cosottini, Mirco |e VerfasserIn |4 aut | |
| 700 | 1 | |a Timmann, Dagmar |e VerfasserIn |4 aut | |
| 700 | 1 | |a Daducci, Alessandro |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schüle-Freyer, Rebecca |d 1975- |e VerfasserIn |0 (DE-588)137544472 |0 (DE-627)695848283 |0 (DE-576)30411118X |4 aut | |
| 700 | 1 | |a Synofzik, Matthis |e VerfasserIn |4 aut | |
| 700 | 1 | |a Santorelli, Filippo Maria |e VerfasserIn |4 aut | |
| 700 | 1 | |a Cocozza, Sirio |e VerfasserIn |4 aut | |
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