Lafora disease

Deepak Madhavan, Ruben I. Kuzniecky

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

Lafora disease (LD) is an autosomal recessive disorder characterized by seizures and progressive neurologic deterioration, and is usually fatal within 10 years of onset. LD is a member of the family of progressive myoclonic epilepsies, which are a heterogeneous group of disorders characterized by myoclonic epilepsy, developmental regression, and associated neurologic symptoms. The following is a report and discussion of a 20-year-old man with no relevant past medical history until the age of 16 years when he had his first generalized tonic-clonic seizure. At a recent medical evaluation, he reported having clusters of generalized tonic-clonic seizure activity 2 to 3 times per week, had recently developed status epilepticus, and was having progressive impairment of cognitive function. The unique clinical elements of LD, including later onset of disease, the excellent initial response to anticonvulsants, and the neurophysiologic clues to the diagnosis are discussed and detailed in relation to this man. Additional research is required to discover a third, unknown locus for LD and to further elucidate the features of the laforin and malin complex-associated pathway. No preventative or curative treatment is currently available for LD and treatment focuses on palliation.

Original languageEnglish (US)
Pages (from-to)131-135
Number of pages5
JournalReviews in Neurological Diseases
Volume3
Issue number3
StatePublished - Jun 1 2006

Fingerprint

Lafora Disease
Seizures
Progressive Myoclonic Epilepsy
Myoclonic Epilepsy
Status Epilepticus
Neurologic Manifestations
Anticonvulsants
Cognition
Nervous System
Epilepsy
Therapeutics
Research

Keywords

  • EPM2A
  • Lafora bodies
  • Lafora disease
  • NHLRC1
  • Progressive myoclonic epilepsies
  • Spike-wave discharges

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Madhavan, D., & Kuzniecky, R. I. (2006). Lafora disease. Reviews in Neurological Diseases, 3(3), 131-135.

Lafora disease. / Madhavan, Deepak; Kuzniecky, Ruben I.

In: Reviews in Neurological Diseases, Vol. 3, No. 3, 01.06.2006, p. 131-135.

Research output: Contribution to journalReview article

Madhavan, D & Kuzniecky, RI 2006, 'Lafora disease', Reviews in Neurological Diseases, vol. 3, no. 3, pp. 131-135.
Madhavan D, Kuzniecky RI. Lafora disease. Reviews in Neurological Diseases. 2006 Jun 1;3(3):131-135.
Madhavan, Deepak ; Kuzniecky, Ruben I. / Lafora disease. In: Reviews in Neurological Diseases. 2006 ; Vol. 3, No. 3. pp. 131-135.
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