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Goldsmith D, Minassian BA. Extraneurological sparing in long-lived typical Lafora disease. Epilepsia Open. 2018;3(2):295-298doi: 10.1002/epi4.12224.
Goldsmith, D., & Minassian, B. A. (2018). Extraneurological sparing in long-lived typical Lafora disease. Epilepsia open, 3(2), 295-298. https://doi.org/10.1002/epi4.12224
Goldsmith, Danielle, and Minassian, Berge A. "Extraneurological sparing in long-lived typical Lafora disease." Epilepsia open vol. 3,2 (2018): 295-298. doi: https://doi.org/10.1002/epi4.12224
Goldsmith D, Minassian BA. Extraneurological sparing in long-lived typical Lafora disease. Epilepsia Open. 2018 May 17;3(2):295-298. doi: 10.1002/epi4.12224. eCollection 2018 Jun. PMID: 29881811; PMCID: PMC5983108.
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Epilepsia Open. 2018 May 17;3(2):295-298. doi: 10.1002/epi4.12224. eCollection 2018 Jun.

Extraneurological sparing in long-lived typical Lafora disease.

Epilepsia open

Danielle Goldsmith, Berge A Minassian

Affiliations

  1. Program in Genetics and Genome Biology The Hospital for Sick Children Research Institute Toronto Ontario Canada.
  2. Institute of Medical Science University of Toronto Toronto Ontario Canada.
  3. Division of Neurology Department of Pediatrics University of Texas Southwestern Dallas Texas U.S.A.

PMID: 29881811 PMCID: PMC5983108 DOI: 10.1002/epi4.12224

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.

Keywords: Adult polyglucosan disease; Epilepsy; Gene therapy; Lafora disease

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