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FDG-PET assessment and metabolic patterns in Lafora disease

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European Journal of Nuclear Medicine and Molecular Imaging Aims and scope Submit manuscript

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.

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Acknowledgements

We are grateful to Dr. Sergio Modoni and Dr. Vincenzo Allegri for their help in performing and analyzing FDG-PET data. We would also like to thank the patients and their families for their kind participation in our research activities.

Author information

Authors and Affiliations

  1. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

    Lorenzo Muccioli, Federica Pondrelli, Laura Licchetta, Elisa Maietti, Paolo Tinuper & Francesca Bisulli

  2. Nuclear Medicine Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy

    Andrea Farolfi, Rachele Bonfiglioli & Stefano Fanti

  3. Epilepsy Centre, Clinic of Nervous System Diseases, Ospedali Riuniti, University of Foggia, Foggia, Italy

    Giuseppe d’Orsi

  4. IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy

    Roberto Michelucci, Laura Licchetta, Francesco Toni, Paolo Tinuper & Francesca Bisulli

  5. Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Elena Freri

  6. Department of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Laura Canafoglia

  7. Medical Physics Unit, S. Orsola Hospital, Bologna, Italy

    Simona Civollani & Cinzia Pettinato

  8. Nuclear Medicine Unit, IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy

    Giorgio Marotta

Authors
  1. Lorenzo Muccioli
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  2. Andrea Farolfi
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  3. Federica Pondrelli
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  5. Roberto Michelucci
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  7. Laura Canafoglia
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  17. Francesca Bisulli
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Contributions

Francesca Bisulli, Lorenzo Muccioli, Andrea Farolfi, and Federica Pondrelli contributed to the study conception and design. Material preparation, data collection, and analysis were performed by all authors. The first draft of the manuscript was written by Lorenzo Muccioli and Andrea Farolfi. Review and editing was performed by Francesca Bisulli, Paolo Tinuper, Andrea Farolfi, Federica Pondrelli, Laura Licchetta, Rachele Bonfiglioli, Simona Civollani, Cinzia Pettinato, Elisa Maietti and Francesco Toni. All authors read and approved the final manuscript. Study supervision: Francesca Bisulli, Paolo Tinuper, and Stefano Fanti.

Corresponding author

Correspondence to Francesca Bisulli.

Ethics declarations

This retrospective analysis was approved by the local ethics committee (reference number: 18076). Written informed consent was obtained from all participants or their legal representatives.

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The authors declare that they have no conflicts of interest.

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Muccioli, L., Farolfi, A., Pondrelli, F. et al. FDG-PET assessment and metabolic patterns in Lafora disease. Eur J Nucl Med Mol Imaging 47, 1576–1584 (2020). https://doi.org/10.1007/s00259-019-04647-3

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  • DOI: https://doi.org/10.1007/s00259-019-04647-3

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