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’s initial classification.

The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients: A Multidisciplinary Study (SENOPRO) / Tullo, Maria Giulia; CERULLI IRELLI, Emanuele; Caramia, Francesca; Tessari, Gianmarco; DI BONAVENTURA, Carlo; Turchetta, Rosaria; Giallonardo, Anna Teresa; Palumbo, Giovanna; Bianchi, Simona; Atturo, Francesca; Nebbioso, Marcella; Mancini, Patrizia; Guariglia, Cecilia; Giona, Fiorina. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 24:(2023), pp. 1-15. [10.3390/ijms24108844]

The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients: A Multidisciplinary Study (SENOPRO)

Maria Giulia Tullo
Writing – Original Draft Preparation
;
Emanuele Cerulli Irelli;Francesca Caramia;Gianmarco Tessari;Carlo Di Bonaventura;Rosaria Turchetta
Investigation
;
Anna Teresa Giallonardo;Giovanna Palumbo;Simona Bianchi;Francesca Atturo
Investigation
;
Marcella Nebbioso
Investigation
;
Patrizia Mancini
Investigation
;
Cecilia Guariglia;Fiorina Giona
2023

Abstract

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’s initial classification.
2023
Gaucher disease; Parkinson’s disease; audiometric; hearing loss; evoked potentials; cognitive; psychiatric; sleep
01 Pubblicazione su rivista::01a Articolo in rivista
The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients: A Multidisciplinary Study (SENOPRO) / Tullo, Maria Giulia; CERULLI IRELLI, Emanuele; Caramia, Francesca; Tessari, Gianmarco; DI BONAVENTURA, Carlo; Turchetta, Rosaria; Giallonardo, Anna Teresa; Palumbo, Giovanna; Bianchi, Simona; Atturo, Francesca; Nebbioso, Marcella; Mancini, Patrizia; Guariglia, Cecilia; Giona, Fiorina. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 24:(2023), pp. 1-15. [10.3390/ijms24108844]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1679938
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