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MRI-ARSACS: an imaging index for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) identification based on the multicenter PROSPAX study

Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and hereditary spastic paraplegia type 7 (SPG7) represent the most common genotypes of spastic ataxia (SPAX). To date, their magnetic resonance imaging (MRI) features have only been described qualitatively, and a pure neur...

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Main Authors: Scaravilli, Alessandra (Author) , Negroni, Davide (Author) , Senatore, Claudio (Author) , Ugga, Lorenzo (Author) , Cosottini, Mirco (Author) , Ricca, Ivana (Author) , Bender, Benjamin (Author) , Traschütz, Andreas (Author) , Başak, Ayşe Nazli (Author) , Vural, Atay (Author) , van de Warrenburg, Bart P. (Author) , Durr, Alexandra (Author) , La Piana, Roberta (Author) , Timmann, Dagmar (Author) , Consortium, Prospax (Author) , Schüle-Freyer, Rebecca (Author) , Synofzik, Matthis (Author) , Santorelli, Filippo Maria (Author) , Cocozza, Sirio (Author)
Format: Article (Journal)
Language:English
Published: 7 June 2024
In: Movement disorders
Year: 2024, Volume: 39, Issue: 8, Pages: 1343-1351
ISSN:1531-8257
DOI:10.1002/mds.29871
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/mds.29871
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/mds.29871
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Author Notes:Alessandra Scaravilli, Davide Negroni, Claudio Senatore, Lorenzo Ugga, Mirco Cosottini, Ivana Ricca, Benjamin Bender, Andreas Traschütz, Ayşe Nazli Başak, Atay Vural, Bart P. van de Warrenburg, Alexandra Durr, Roberta La Piana, Dagmar Timmann, Prospax Consortium, Rebecca Schüle, Matthis Synofzik, Filippo Maria Santorelli, and Sirio Cocozza
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Summary:Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and hereditary spastic paraplegia type 7 (SPG7) represent the most common genotypes of spastic ataxia (SPAX). To date, their magnetic resonance imaging (MRI) features have only been described qualitatively, and a pure neuroradiological differential diagnosis between these two conditions is difficult to achieve. Objectives To test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease). Methods In this prospective multicenter study, 3D-T1-weighted images of 59 ARSACS (35.4 ± 10.3 years, M/F = 33/26) and 78 SPG7 (54.8 ± 10.3 years, M/F = 51/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9 ± 16.9 years, M/F = 15/15). Different linear and surface measures were evaluated. A receiver operating characteristic analysis was performed, calculating area under the curve (AUC) and corresponding diagnostic accuracy parameters. Results The pons area proved to be the only metric increased exclusively in ARSACS patients (P = 0.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with P ≤ 0.005). A cut-off value equal to 1.67 of the pons-to-superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7. Conclusions Evaluation of the pons-to-superior vermis area ratio can discriminate ARSACS from other SPAX patients, as exemplified here by SPG7. Hence, we hereby propose this ratio as the Magnetic Resonance Index for the Assessment and Recognition of patients harboring SACS mutations (MRI-ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI.
Item Description:Gesehen am 02.12.2024
Physical Description:Online Resource
ISSN:1531-8257
DOI:10.1002/mds.29871

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