{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:31:20Z","timestamp":1753878680236,"version":"3.41.2"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T00:00:00Z","timestamp":1749600000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Expanding on earlier findings of auditory involvement from two small\u2010scale studies, we conducted a comprehensive evaluation of hearing levels in a larger cohort of SBMA patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirty\u2010six SBMA patients and 36 age\u2010matched male controls without risk factors for hearing loss underwent a comprehensive audiological assessment, including pure\u2010tone audiometry at 250, 500, 1000, 2000, 4000, and 8000\u2009Hz frequencies, using both air and bone conduction. The pure\u2010tone average (PTA) was calculated as the mean threshold at 500, 1000, 2000, and 4000\u2009Hz. A correlation analysis was performed to evaluate the relationship between patients' audiological features and clinical characteristics, including motor disability, as measured by the SBMA functional rating scale (SBMAFRS) and the 6\u2010min walk test (6MWT).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>PTA values were significantly higher in SBMA patients compared to healthy controls (Mann\u2013Whitney <jats:italic>U<\/jats:italic> test, <jats:italic>p<\/jats:italic>\u2009=\u20090.0005, and <jats:italic>p<\/jats:italic>\u2009=\u20090.0001 for the right and left side, respectively), even when analysis was restricted to the 19 SBMA patients without risk factors for hearing loss (Mann\u2013Whitney <jats:italic>U<\/jats:italic> test, <jats:italic>p<\/jats:italic>\u2009=\u20090.0148 and <jats:italic>p<\/jats:italic>\u2009=\u20090.0243 for the right and left ear, respectively). In the latter group, the hearing thresholds of each individual frequency were significantly higher than in controls, except for the intermediate frequencies (2000\u2009Hz on both sides and 1000 on the left one). Negative significant correlations were found between PTA values and both the CAG repeat number and 6MWT distances. Conversely, SBMAFRS scores were overall unrelated to PTA values.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings suggest a disease\u2010specific hearing impairment in SBMA patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.70213","type":"journal-article","created":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T07:40:43Z","timestamp":1749627643000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hearing Function in Spinal and Bulbar Muscular Atrophy (<scp>SBMA<\/scp>): A Case Control Study From a Tertiary Referral Center"],"prefix":"10.1111","volume":"32","author":[{"given":"Lorenzo","family":"Blasi","sequence":"first","affiliation":[{"name":"MND Center, Department of Neuroscience DNS University Hospital of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Franz","sequence":"additional","affiliation":[{"name":"Phoniatrics and Audiology Unit, Department of Neuroscience DNS University of Padova  Treviso Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Romito","sequence":"additional","affiliation":[{"name":"MND Center, Department of Neuroscience DNS University Hospital of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Fortuna","sequence":"additional","affiliation":[{"name":"MND Center, Department of Neuroscience DNS University Hospital of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo Maria","family":"Minicuci","sequence":"additional","affiliation":[{"name":"MND Center, Department of Neuroscience DNS University Hospital of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alen","family":"Bebeti","sequence":"additional","affiliation":[{"name":"MND Center, Department of Neuroscience DNS University Hospital of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Paredi","sequence":"additional","affiliation":[{"name":"MND Center, Department of Neuroscience DNS University Hospital of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosario Marchese","family":"Ragona","sequence":"additional","affiliation":[{"name":"Otolaryngology Section, Department of Neuroscience DNS University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8634-0767","authenticated-orcid":false,"given":"Maria","family":"Pennuto","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences (DBS), university of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cosimo","family":"de Filippis","sequence":"additional","affiliation":[{"name":"Phoniatrics and Audiology Unit, Department of Neuroscience DNS University of Padova  Treviso Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gino","family":"Marioni","sequence":"additional","affiliation":[{"name":"Phoniatrics and Audiology Unit, Department of Neuroscience DNS University of Padova  Treviso Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9691-6328","authenticated-orcid":false,"given":"Gianni","family":"Sorar\u00f9","sequence":"additional","affiliation":[{"name":"MND Center, Department of Neuroscience DNS University Hospital of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.18.7.671"},{"key":"e_1_2_8_3_1","first-page":"209","article-title":"A Candidate Gene for X\u2010Linked Spinal Muscular Atrophy","volume":"56","author":"Fischbeck K. H.","year":"1991","journal-title":"Advances in Neurology"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000507"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yfrne.2011.06.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2023.102394"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440216"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh381"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000072860"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102015\u2010311305"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/112.1.209"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00868997"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097\u20104598(200002)23:2<252::aid\u2010mus17>3.0.co;2\u2010p"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm289"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25977"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1017\/s0317167100006764"},{"key":"e_1_2_8_17_1","unstructured":"Human Protein Atlas proteinatlas.org."},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000107431"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010016\u20102666\u2010y"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.03.008"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21077"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac198"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjorl.2015.11.016"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/wjo2.59"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1177\/0194599819844961"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.166.1.at1102"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.25927"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(20)30367\u20106"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.70213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T13:49:30Z","timestamp":1750945770000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.70213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1111\/ene.70213"],"URL":"https:\/\/doi.org\/10.1111\/ene.70213","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"type":"print","value":"1351-5101"},{"type":"electronic","value":"1468-1331"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"2024-10-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70213"}}