Mild Lafora disease: Clinical, neurophysiologic, and genetic findings

Edoardo Ferlazzo, Laura Canafoglia, Roberto Michelucci, Antonio Gambardella, Elena Gennaro, Elena Pasini, Patrizia Riguzzi, Rosaria Plasmati, Lilia Volpi, Angelo Labate, Sara Gasparini, Flavio Villani, Marina Casazza, Maurizio Viri, Federico Zara, Berge A. Minassian, Julie Turnbull, Jose M. Serratosa, Rosa Guerrero-Lõpez, Silvana FranceschettiUmberto Aguglia

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


We report clinical, neurophysiologic, and genetic features of an Italian series of patients with Lafora disease (LD) to identify distinguishing features of those with a slowly progressive course. Twenty-three patients with LD (17 female; 6 male) were recruited. Mean age (± SD) at the disease onset was 14.5 ± 3.9 years and mean follow-up duration was 13.2 ± 8.0 years. NHLRC1 mutations were detected in 18 patients; EPM2A mutations were identified in 5. Patients who maintained >10 years gait autonomy were labeled as "mild" and were compared with the remaining LD patients with a typical course. Six of 23 patients were mild and presented significantly delay in the age at onset, lower neurologic disability score at 4 years after the onset, less severe seizure phenotype, lower probability of showing both photoparoxysmal response on electroencephalography (EEG) and giant somatosensory evoked potentials, as compared to patients with typical LD. However, in both mild and typical LD patients, EEG showed disorganization of background activity and frequent epileptiform abnormalities. Mild LD patients had NHLRC1 mutations and five of six carried homozygous or compound heterozygous D146N mutation. This mutation was found in none of the patients with typical LD. The occurrence of specific NHLRC1 mutations in patients with mild LD should be taken into account in clinical practice for appropriate management and counseling.

Original languageEnglish (US)
Pages (from-to)e129-e133
Issue number12
StatePublished - Dec 1 2014


  • Dementia
  • EEG
  • Mild
  • Progressive myoclonus epilepsy
  • Slowly progressive

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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