Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy

P. Tinuper, G. Plazzi, L. Monari, S. Sangiorgi, J. F. Pellissier, A. Cerullo, F. Provini, S. Capellari, A. Baruzzi, E. Lugaresi, P. Montagna

Research output: Contribution to journalArticle

Abstract

Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, cerebellar signs, and spontaneous myoclonus. Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and mental impairment, hallmarks of Lafora disease. Lysosomal enzyme assays showed low level arylsulfatase A (ASA) activity. DNA study disclosed a homozygous ASA Pd genotype. Both parents carried one Pd allele. The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME.

Original languageEnglish
Pages (from-to)332-335
Number of pages4
JournalEpilepsia
Volume35
Issue number2
Publication statusPublished - 1994

Keywords

  • Arylsulfatase A pseudodeficiency
  • Epilepsy
  • Lafora bodies
  • Neurologic manifestations
  • Progressive myoclonic epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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    Tinuper, P., Plazzi, G., Monari, L., Sangiorgi, S., Pellissier, J. F., Cerullo, A., Provini, F., Capellari, S., Baruzzi, A., Lugaresi, E., & Montagna, P. (1994). Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy. Epilepsia, 35(2), 332-335.