{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T14:51:52Z","timestamp":1788360712059,"version":"build-2803163510"},"reference-count":58,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T00:00:00Z","timestamp":1684195200000},"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":["IJMS"],"abstract":"<jats:p>Gaucher disease (GD) has been increasingly recognized as a continuum of phenotypes with variable neurological and sensory involvement. No study has yet specifically explored the spectrum of neuropsychiatric and sensory abnormalities in GD patients through a multidisciplinary approach. Abnormalities involving the nervous system, including sensory abnormalities, cognitive disturbances, and psychiatric comorbidities, have been identified in GD1 and GD3 patients. In this prospective study, named SENOPRO, we performed neurological, neuroradiological, neuropsychological, ophthalmological, and hearing assessments in 22 GD patients: 19 GD1 and 3 GD3. First, we highlighted a high rate of parkinsonian motor and non-motor symptoms (including high rates of excessive daytime sleepiness), especially in GD1 patients harboring severe glucocerebrosidase variants. Secondly, neuropsychological evaluations revealed a high prevalence of cognitive impairment and psychiatric disturbances, both in patients initially classified as GD1 and GD3. Thirdly, hippocampal brain volume reduction was associated with impaired short- and long-term performance in an episodic memory test. Fourthly, audiometric assessment showed an impaired speech perception in noise in the majority of patients, indicative of an impaired central processing of hearing, associated with high rates of slight hearing loss both in GD1 and GD3 patients. Finally, relevant structural and functional abnormalities along the visual system were found both in GD1 and GD3 patients by means of visual evoked potentials and optical coherence tomography. Overall, our findings support the concept of GD as a spectrum of disease subtypes, and support the importance of in-depth periodic monitoring of cognitive and motor performances, mood, sleep patterns, and sensory abnormalities in all patients with GD, independently from the patient\u2019s initial classification.<\/jats:p>","DOI":"10.3390\/ijms24108844","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T02:04:05Z","timestamp":1684289045000},"page":"8844","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients: A Multidisciplinary Study (SENOPRO)"],"prefix":"10.3390","volume":"24","author":[{"given":"Maria Giulia","family":"Tullo","sequence":"first","affiliation":[{"name":"Department of Translational and Precision Medicine, \u201cLa Sapienza\u201d University of Rome, 00161 Rome, Italy"},{"name":"Department of Neuroscience, Imaging and Clinical Sciences, ITAB\u2014Institute of Advanced Biomedical Technologies, \u201cG. D\u2019Annunzio\u201d University, 66100 Chieti, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Cerulli Irelli","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8396-1282","authenticated-orcid":false,"given":"Francesca","family":"Caramia","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianmarco","family":"Tessari","sequence":"additional","affiliation":[{"name":"Department of Psychology, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"},{"name":"PhD Program in Behavioral Neuroscience, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Di Bonaventura","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaria","family":"Turchetta","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Teresa","family":"Giallonardo","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Department of Translational and Precision Medicine, \u201cLa Sapienza\u201d University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Department of Translational and Precision Medicine, \u201cLa Sapienza\u201d University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4423-2271","authenticated-orcid":false,"given":"Francesca","family":"Atturo","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5512-0849","authenticated-orcid":false,"given":"Marcella","family":"Nebbioso","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0556-2056","authenticated-orcid":false,"given":"Patrizia","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Guariglia","sequence":"additional","affiliation":[{"name":"Department of Psychology, \u201cLa Sapienza\u201d University of Rome, 00185 Rome, Italy"},{"name":"Cognitive and Motor Rehabilitation and Neuroimaging Unit, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, \u201cLa Sapienza\u201d University of Rome, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,16]]},"reference":[{"key":"ref_1","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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