Publications

Authors:

Scaravilli, Alessandra; Gabusi, Ilaria; Mari, Gaia; Battocchio, Matteo; Bosticardo, Sara; Schiavi, Simona; Bender, Benjamin; Kessler, Christoph; Brais, Bernard; La Piana, Roberta; van de Warrenburg, Bart P.; Cosottini, Mirco; Timmann, Dagmar; Daducci, Alessandro; Schüle, Rebecca; Synofzik, Matthis; Santorelli, Filippo Maria; Cocozza, Sirio; Null, Null

Title:

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study

Year:

2024

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

Journal of Neurology

ISSN of journal:

0340-5354

Page numbers:

1-1

Keyword:

ARSACS; Ataxia; Diffusion tensor imaging; Magnetic resonance imaging; SPG7

Short description of contents:

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.

Product ID:

140353

Handle IRIS:

11562/1130066

Last Modified:

September 22, 2024

Bibliographic citation:

Scaravilli, Alessandra; Gabusi, Ilaria; Mari, Gaia; Battocchio, Matteo; Bosticardo, Sara; Schiavi, Simona; Bender, Benjamin; Kessler, Christoph; Brais, Bernard; La Piana, Roberta; van de Warrenburg, Bart P.; Cosottini, Mirco; Timmann, Dagmar; Daducci, Alessandro; Schüle, Rebecca; Synofzik, Matthis; Santorelli, Filippo Maria; Cocozza, Sirio; Null, Null, An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study «Journal of Neurology» , 2024 , pp. 1-1

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