Lorenzo Muccioli1, Andrea Farolfi2, Federica Pondrelli1, Giuseppe d'Orsi3, Roberto Michelucci4, Elena Freri5, Laura Canafoglia6, Laura Licchetta1,4, Francesco Toni4, Rachele Bonfiglioli2, Simona Civollani7, Cinzia Pettinato7, Elisa Maietti1, Giorgio Marotta8, Stefano Fanti2, Paolo Tinuper1,4, Francesca Bisulli9,10. 1. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. 2. Nuclear Medicine Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy. 3. Epilepsy Centre, Clinic of Nervous System Diseases, Ospedali Riuniti, University of Foggia, Foggia, Italy. 4. IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. 5. Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 6. Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 7. Medical Physics Unit, S. Orsola Hospital, Bologna, Italy. 8. Nuclear Medicine Unit, IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy. 9. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. francesca.bisulli@unibo.it. 10. IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. francesca.bisulli@unibo.it.
Abstract
PURPOSE: To describe cerebral glucose metabolism pattern as assessed by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) in Lafora disease (LD), a rare, lethal form of progressive myoclonus epilepsy caused by biallelic mutations in EPM2A or NHLRC1. METHODS: We retrospectively included patients with genetically confirmed LD who underwent FDG-PET scan referred to three Italian epilepsy centers. FDG-PET images were evaluated both visually and using SPM12 software. Subgroup analysis was performed on the basis of genetic and clinical features employing SPM. Moreover, we performed a systematic literature review of LD cases that underwent FDG-PET assessment. RESULTS: Eight Italian patients (3M/5F, 3 EPM2A/5 NHLRC1) underwent FDG-PET examination after a mean of 6 years from disease onset (range 1-12 years). All patients showed bilateral hypometabolic areas, more diffuse and pronounced in advanced disease stages. Most frequently, the hypometabolic regions were the temporal (8/8), parietal (7/8), and frontal lobes (7/8), as well as the thalamus (6/8). In three cases, the FDG-PET repeated after a mean of 17 months (range 7-36 months) showed a metabolic worsening compared with the baseline examination. The SPM subgroup analysis found no significant differences based on genetics, whereas it showed a more significant temporoparietal hypometabolism in patients with visual symptoms compared with those without. In nine additional cases identified from eight publications, FDG-PET showed heterogeneous findings, ranging from diffusely decreased cerebral glucose metabolism to unremarkable examinations in two cases. CONCLUSIONS: FDG-PET seems highly sensitive to evaluate LD at any stage and may correlate with disease progression. Areas of decreased glucose metabolism in LD are extensive, often involving multiple cortical and subcortical regions, with thalamus, temporal, frontal, and parietal lobes being the most severely affected. Prospective longitudinal collaborative studies are needed to validate our findings.
PURPOSE: To describe cerebral glucose metabolism pattern as assessed by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) in Lafora disease (LD), a rare, lethal form of progressive myoclonus epilepsy caused by biallelic mutations in EPM2A or NHLRC1. METHODS: We retrospectively included patients with genetically confirmed LD who underwent FDG-PET scan referred to three Italian epilepsy centers. FDG-PET images were evaluated both visually and using SPM12 software. Subgroup analysis was performed on the basis of genetic and clinical features employing SPM. Moreover, we performed a systematic literature review of LD cases that underwent FDG-PET assessment. RESULTS: Eight Italian patients (3M/5F, 3 EPM2A/5 NHLRC1) underwent FDG-PET examination after a mean of 6 years from disease onset (range 1-12 years). All patients showed bilateral hypometabolic areas, more diffuse and pronounced in advanced disease stages. Most frequently, the hypometabolic regions were the temporal (8/8), parietal (7/8), and frontal lobes (7/8), as well as the thalamus (6/8). In three cases, the FDG-PET repeated after a mean of 17 months (range 7-36 months) showed a metabolic worsening compared with the baseline examination. The SPM subgroup analysis found no significant differences based on genetics, whereas it showed a more significant temporoparietal hypometabolism in patients with visual symptoms compared with those without. In nine additional cases identified from eight publications, FDG-PET showed heterogeneous findings, ranging from diffusely decreased cerebral glucose metabolism to unremarkable examinations in two cases. CONCLUSIONS:FDG-PET seems highly sensitive to evaluate LD at any stage and may correlate with disease progression. Areas of decreased glucose metabolism in LD are extensive, often involving multiple cortical and subcortical regions, with thalamus, temporal, frontal, and parietal lobes being the most severely affected. Prospective longitudinal collaborative studies are needed to validate our findings.
Authors: A G De Volder; S Cirelli; T de Barsy; J M Brucher; A Bol; C Michel; A M Goffinet Journal: J Neurol Neurosurg Psychiatry Date: 1990-12 Impact factor: 10.154
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Authors: Paul Rogowski; Christian Trapp; Rieke von Bestenbostel; Chukwuka Eze; Ute Ganswindt; Minglun Li; Marcus Unterrainer; Mathias J Zacherl; Harun Ilhan; Leonie Beyer; Alexander Kretschmer; Peter Bartenstein; Christian Stief; Claus Belka; Nina-Sophie Schmidt-Hegemann Journal: Eur J Nucl Med Mol Imaging Date: 2021-10-10 Impact factor: 9.236
Authors: Daniel F Burgos; Lorena Cussó; Gentzane Sánchez-Elexpuru; Daniel Calle; Max Bautista Perpinyà; Manuel Desco; José M Serratosa; Marina P Sánchez Journal: Int J Mol Sci Date: 2020-10-20 Impact factor: 5.923