Extraneurological sparing in long-lived typical Lafora disease

Danielle Goldsmith, Berge A. Minassian

Research output: Contribution to journalArticle

Abstract

Lafora disease (LD) clinically appears in previously healthy teenagers as progressively worsening seizures, myoclonus, dementia, and ultimately a vegetative state leading to death within a decade of its onset. Here we present a typical case of LD in which the patient survived until the age of 40. Although the patient's brain was severely affected, other organs remained functional until her death. The field of LD research is approaching potentially curative therapies (eg, with antisense oligonucleotides or gene replacement) targeting only the central nervous system (CNS). Our case provides anecdotal evidence suggesting that a patient with typical LD can retain full bodily health aside from the effects of neurological damage.

Original languageEnglish (US)
Pages (from-to)295-298
Number of pages4
JournalEpilepsia Open
Volume3
Issue number2
DOIs
StatePublished - 2018

Keywords

  • Adult polyglucosan disease
  • Epilepsy
  • Gene therapy
  • Lafora disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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