A pilot study of a ketogenic diet in patients with Lafora body disease

Simonetta Cardinali, Laura Canafoglia, Simona Bertoli, Silvana Franceschetti, Giovanni Lanzi, Anna Tagliabue, Pierangelo Veggiotti

Research output: Contribution to journalArticle

Abstract

Purpose: Lafora body disease (LBD) is severe and rapidly worsening progressive myoclonus epilepsy (PME), not treatable with specific therapy. In LBD patients, typical polyglucosan accumulations result from alterations of proteins involved in the regulation of glycogen metabolism. Thus, a ketogenic regimen might reasonably be expected to counteract the disease progression. We set out to assess the feasibility and tolerability of a long-term ketogenic diet (KD) in LBD patients and to make a preliminary evaluation of its effect on the disease course. Methods: We treated five LBD patients with KD and evaluated the changes in the clinical, neuropsychological and neurophysiological findings over 10-30 months. Results: The KD was well tolerated in all the patients for the first 16 months. Nutritional measures and laboratory findings remained substantially stable. The disease progressed in all the patients, reaching an advanced stage in one. Electrophysiological findings indicated the presence of increased cortical excitability in four patients, paralleling the worsening of the myoclonus. Conclusion: KD was unable to stop the disease progression. However, given the considerable heterogeneity of the natural history of LBD, we cannot exclude the possibility that KD has the potential to slow down the disease progression. The application of this nutritional approach should be further evaluated in larger case series.

Original languageEnglish
Pages (from-to)129-134
Number of pages6
JournalEpilepsy Research
Volume69
Issue number2
DOIs
Publication statusPublished - May 2006

Keywords

  • Ketogenic diet
  • Lafora disease
  • Neurophysiological findings
  • Neuropsychological evolution
  • Therapy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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