FDG-PET assessment and metabolic patterns in Lafora disease

Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1576-1584. doi: 10.1007/s00259-019-04647-3. Epub 2019 Dec 19.


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.

Keywords: Disease progression; EPM2A; NHLRC1; PET/CT; PME; Progressive myoclonus epilepsy.

Publication types

  • Systematic Review

MeSH terms

  • Brain / diagnostic imaging
  • Fluorodeoxyglucose F18*
  • Humans
  • Lafora Disease* / diagnostic imaging
  • Lafora Disease* / genetics
  • Positron-Emission Tomography
  • Prospective Studies
  • Retrospective Studies
  • Ubiquitin-Protein Ligases


  • Fluorodeoxyglucose F18
  • NHLRC1 protein, human
  • Ubiquitin-Protein Ligases