{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:52:54Z","timestamp":1792515174659,"version":"4.5.0"},"reference-count":44,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2019,8,14]],"date-time":"2019-08-14T00:00:00Z","timestamp":1565740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["20122EK9SZ_002"],"award-info":[{"award-number":["20122EK9SZ_002"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Background: Cervical myelopathy (CM) is a common cause of morbidity and disability in patients with mucopolysaccharidosis (MPS) and, therefore, early detection is crucial for the best surgical intervention and follow-up. Transcranial magnetic stimulation (TMS) non-invasively evaluates the conduction through the cortico-spinal tract, also allowing preclinical diagnosis and monitoring. Methods: Motor evoked potentials (MEPs) to TMS were recorded in a group of eight patients with MPS-related CM. Responses were obtained during mild tonic muscular activation by means of a circular coil held on the \u201chot spot\u201d of the first dorsal interosseous and tibialis anterior muscles, bilaterally. The motor latency by cervical or lumbar magnetic stimulation was subtracted from the MEP cortical latency to obtain the central motor conduction time. The MEP amplitude from peak to peak to cortical stimulation and the interside difference of each measure were also calculated. Results: TMS revealed abnormal findings from both upper and lower limbs compatible with axonal damage and demyelination in six of them. Notably, a subclinical cervical spinal disease was detected before the occurrence of an overt CM in two patients, whereas TMS signs compatible with a CM of variable degree persisted despite surgery in all treated subjects. Conclusions: TMS can be viewed as an adjunct diagnostic test pending further rigorous investigations.<\/jats:p>","DOI":"10.3390\/brainsci9080200","type":"journal-article","created":{"date-parts":[[2019,8,15]],"date-time":"2019-08-15T04:22:54Z","timestamp":1565842974000},"page":"200","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9072-4971","authenticated-orcid":false,"given":"Mariagiovanna","family":"Cantone","sequence":"first","affiliation":[{"name":"Department of Neurology, Sant\u2019Elia Hospital, ASP Caltanissetta, Via Luigi Russo 6, 93100 Caltanissetta, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5659-662X","authenticated-orcid":false,"given":"Giuseppe","family":"Lanza","sequence":"additional","affiliation":[{"name":"Department of Surgery and Medical-Surgical Specialties, University of Catania, Via Santa Sofia 78, 95125 Catania, Italy"},{"name":"Department of Neurology IC, Oasi Research Institute\u2014IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Le Pira","sequence":"additional","affiliation":[{"name":"Referral Center for Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, University of Catania. Via Santa Sofia 78, 95125 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6302-2686","authenticated-orcid":false,"given":"Rita","family":"Barone","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Via Santa Sofia 78, 95125 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Pennisi","sequence":"additional","affiliation":[{"name":"Department of Surgery and Medical-Surgical Specialties, University of Catania, Via Santa Sofia 78, 95125 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8332-6863","authenticated-orcid":false,"given":"Rita","family":"Bella","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Advanced Technologies, Section of Neurosciences, University of Catania, Via Santa Sofia 78, 95125 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Pennisi","sequence":"additional","affiliation":[{"name":"Department of Biological and Biotechnological Sciences, University of Catania, Via Santa Sofia 78, 95125 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Fiumara","sequence":"additional","affiliation":[{"name":"Referral Center for Inherited Metabolic Diseases, Department of Clinical and Experimental Medicine, University of Catania. Via Santa Sofia 78, 95125 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,8,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2018.01.003","article-title":"Clinical presentation and diagnosis of mucopolysaccharidoses","volume":"125","author":"Stapleton","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/s13052-018-0561-2","article-title":"Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses","volume":"44","author":"Barone","year":"2018","journal-title":"Ital. J. 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