Clinical and genetic findings in 26 Italian patients with Lafora disease

Silvana Franceschetti, Antonio Gambardella, Laura Canafoglia, Pasquale Striano, Hannes Lohi, Elena Gennaro, Leonarda Ianzano, Pierangelo Veggiotti, Vito Sofia, Roberto Biondi, Salvatore Striano, Cinzia Gellera, Grazia Annesi, Francesca Madia, Donata Civitelli, Francesca E. Rocca, Aldo Quattrone, Giuliano Avanzini, Berge Minassian, Federico Zara

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


Purpose: EPM2B mutations have been found in a variable proportion of patients with Lafora disease (LD). Genotype-phenotype correlations suggested that EPM2B patients show a slower course of the disease, with delayed age at death, compared with EPM2A patients. We herein report clinical and genetic findings of 26 Italian LD patients. Methods: Disease progression was evaluated by means of a disability scale based on residual motor and cognitive functions and daily living and social abilities, at 4 years from the onset. Mutational analysis was performed by sequencing the coding regions of the EPM2A and EPM2B genes. Results: Age at onset ranged from 8.5 to 18.5 years (mean, 13.7 ± 2.6). The mean duration of follow-up was 7.1 ± 3.9 years. Daily living activities and social interactions were preserved in five of 24 patients. The remaining patients showed moderate to extremely severe limitations of daily living and social abilities. Sixteen (72%) of 22 families showed mutations in the EPM2B gene, and five (22%), in the EPM2A gene. One family showed no mutations. A novel EPM2B mutation also was identified. Conclusions: In our series, EPM2B mutations occurred in 72% of families, thus indicating that EPM2B is the major gene for LD in the Italian population. Moreover, we found that six of 17 EPM2B patients preserved daily living activities and social interactions at 4 years from onset, suggesting a slow disease progression. Additional clinical and functional studies will clarify whether specific mutations may influence the course of the disease in LD patients.

Original languageEnglish (US)
Pages (from-to)640-643
Number of pages4
Issue number3
StatePublished - Mar 2006


  • Genetics
  • Lafora disease
  • Progressive myoclonic epilepsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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