{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T03:26:01Z","timestamp":1790047561198,"version":"4.0.1"},"reference-count":32,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal recessive spastic ataxia of Charlevoix\u2010Saguenay (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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this prospective multicenter study, 3D\u2010T1\u2010weighted images of 59 ARSACS (35.4\u2009\u00b1\u200910.3\u2009years, M\/F\u2009=\u200933\/26) and 78 SPG7 (54.8\u2009\u00b1\u200910.3\u2009years, M\/F\u2009=\u200951\/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9\u2009\u00b1\u200916.9\u2009years, M\/F\u2009=\u200915\/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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The pons area proved to be the only metric increased exclusively in ARSACS patients (<jats:italic>P<\/jats:italic>\u2009=\u20090.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with <jats:italic>P<\/jats:italic>\u2009\u2264\u20090.005). A cut\u2010off value equal to 1.67 of the pons\u2010to\u2010superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Evaluation of the pons\u2010to\u2010superior 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\u2010ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI. \u00a9 2024 The Author(s). <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29871","type":"journal-article","created":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T04:35:01Z","timestamp":1717734901000},"page":"1343-1351","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>MRI\u2010ARSACS<\/scp>: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix\u2010Saguenay (<scp>ARSACS)<\/scp> Identification Based on the Multicenter <scp>PROSPAX<\/scp> Study"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6375-5783","authenticated-orcid":false,"given":"Alessandra","family":"Scaravilli","sequence":"first","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Negroni","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1047-6429","authenticated-orcid":false,"given":"Claudio","family":"Senatore","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7811-4612","authenticated-orcid":false,"given":"Lorenzo","family":"Ugga","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9400-6574","authenticated-orcid":false,"given":"Mirco","family":"Cosottini","sequence":"additional","affiliation":[{"name":"Department of Translational Research on New Technologies in Medicine and Surgery University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8939-1447","authenticated-orcid":false,"given":"Ivana","family":"Ricca","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3205-4631","authenticated-orcid":false,"given":"Benjamin","family":"Bender","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Neuroradiology University of T\u00fcbingen  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8165-5898","authenticated-orcid":false,"given":"Andreas","family":"Trasch\u00fctz","sequence":"additional","affiliation":[{"name":"Division Translational Genomics of Neurodegenerative Diseases, Center for Neurology and Hertie Institute for Clinical Brain Research University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE)  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6977-2517","authenticated-orcid":false,"given":"Ay\u015fe Nazli","family":"Ba\u015fak","sequence":"additional","affiliation":[{"name":"Translational Medicine Research Center, KUTTAM\u2010NDAL Ko\u00e7 University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3222-874X","authenticated-orcid":false,"given":"Atay","family":"Vural","sequence":"additional","affiliation":[{"name":"Department of Neurology Ko\u00e7 University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart P.","family":"van de Warrenburg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"ICM, Inserm, CNRS, AP\u2010HP Paris Brain Institute, Sorbonne University  Paris 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