FDG-PET assessment and metabolic patterns in Lafora disease

Lorenzo Muccioli, Andrea Farolfi, Federica Pondrelli, Giuseppe d'Orsi, Roberto Michelucci, Elena Freri, Laura Canafoglia, Laura Licchetta, Francesco Toni, Rachele Bonfiglioli, Simona Civollani, Cinzia Pettinato, Elisa Maietti, Giorgio Marotta, Stefano Fanti, Paolo Tinuper, Francesca Bisulli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalEuropean Journal of Nuclear Medicine and Molecular Imaging
Publication statusE-pub ahead of print - Dec 19 2019


Dive into the research topics of 'FDG-PET assessment and metabolic patterns in Lafora disease'. Together they form a unique fingerprint.

Cite this