{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T05:13:35Z","timestamp":1775279615982,"version":"3.50.1"},"reference-count":54,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T00:00:00Z","timestamp":1775088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>Background: Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA1 gene. Traditionally, GD is classified into three subtypes based on the severity of neurological involvement; however, overlapping clinical features increasingly suggest a continuum of phenotypes rather than distinct categories. In this prospective observational cohort study, we conducted a multidisciplinary assessment of patients with GD to identify and monitor neurological, cognitive, auditory, and visual impairments. Materials and Methods: A comprehensive clinical and instrumental evaluation was performed at baseline and repeated at follow-up, with a median interval of 37 months (IQR 36\u201338). Neurological assessments included physical examination, clinical rating scales, video-EEG, and brain MRI. Cognitive status was assessed using a standardized battery of neuropsychological tests. Detailed audiological and ophthalmological evaluations were also conducted. Paired parametric or non-parametric tests were applied as appropriate, with Bonferroni correction for cognitive outcomes (p &lt; 0.05). Results: Of the 22 patients assessed at baseline, 18 completed the follow-up evaluation. Neurological assessments showed a worsening of subtle parkinsonian signs, with significant increases in Movement Disorder Society\u2013Unified Parkinson\u2019s Disease Rating Scale Part III scores (p = 0.04) and non-motor symptom scores (p = 0.01). Two of the eighteen patients developed epilepsy during follow-up. A high prevalence of sleep disturbances was confirmed, with 27.8% exhibiting excessive daytime sleepiness and 16.7% reporting REM sleep behaviour disorder on standardized questionnaires. Compared with baseline, cognitive assessments revealed a higher proportion of patients with performance below normative population scores in at least one cognitive domain, particularly memory. Sensorineural hearing loss was confirmed in 11 of 15 patients (73.3%) who underwent audiological evaluation, with progressive worsening of audiometric thresholds observed in 7 of 11 (64%). Ophthalmological evaluations showed no changes in visual acuity or OCT findings; however, multifocal electroretinography abnormalities were detected in 12 of 13 patients. Conclusions: Through in-depth phenotyping, this study identifies measurable neurological, cognitive, and sensory progressive changes in patients with GD over time, supporting the value of tailored, multidisciplinary long-term care strategies to monitor and address emerging clinical needs in this rare disease.<\/jats:p>","DOI":"10.3390\/medsci14020181","type":"journal-article","created":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T14:09:54Z","timestamp":1775138994000},"page":"181","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Longitudinal Evaluation of Neurological and Sensory Changes in Gaucher Disease: A Prospective Observational Cohort Study (SENOPRO)"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3906-555X","authenticated-orcid":false,"given":"Emanuele","family":"Cerulli Irelli","sequence":"first","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7014-6617","authenticated-orcid":false,"given":"Adolfo","family":"Mazzeo","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicoletta","family":"Fallarino","sequence":"additional","affiliation":[{"name":"Department of Psychology, Sapienza University of Rome, 00185 Rome, Italy"},{"name":"Department of Translational and Precision Medicine, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8396-1282","authenticated-orcid":false,"given":"Francesca","family":"Caramia","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianmarco","family":"Tessari","sequence":"additional","affiliation":[{"name":"Department of Psychology, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enza","family":"Morgillo","sequence":"additional","affiliation":[{"name":"Department of Psychology, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Di Bonaventura","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosaria","family":"Turchetta","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Department of Translational and Precision Medicine, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Giulia","family":"Tullo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Imaging and Clinical Sciences, University G. d\u2019Annunzio of Chieti-Pescara, Via dei Vestini 31, 66100 Chieti, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Mariani","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5512-0849","authenticated-orcid":false,"given":"Marcella","family":"Nebbioso","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0982-0905","authenticated-orcid":false,"given":"Patrizia","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Guariglia","sequence":"additional","affiliation":[{"name":"Department of Psychology, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8054-6158","authenticated-orcid":false,"given":"Fiorina","family":"Giona","sequence":"additional","affiliation":[{"name":"Department of Translational and Precision Medicine, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1080\/10245332.2016.1240391","article-title":"Gaucher disease epidemiology and natural history: A comprehensive review of the literature","volume":"22","author":"Nalysnyk","year":"2017","journal-title":"Hematology"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., and Brassier, A. 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