EPILESSIA MIOCLONICA NON PROGRESSIVA CON CORPI DI LAFORA E PSEUDODEFICIENZA DI ARILSULFATASI A

Translated title of the contribution: Arylsulphatase A (ASA) pseudodeficiency (PD) and Lafora bodies (LB) in a patient with non progressive myoclonic epilepsy

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

Research output: Contribution to journalArticlepeer-review

Abstract

We report the case of a 25 yrs old girl with myoclonic epilepsy without progressive course and mental impairment. Skin biopsy showed typical LB. Lysosomal enzymes activity assays revealed low level of ASA and the DNA studies disclosed a homozygous ASA Pd/Pd genotype. Both parents carried one Pd allele. This is the second case reported with the link between low level of ASA activity and myoclonic epilepsy with LB.

Translated title of the contributionArylsulphatase A (ASA) pseudodeficiency (PD) and Lafora bodies (LB) in a patient with non progressive myoclonic epilepsy
Original languageItalian
Pages (from-to)195-196
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number79-80
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'Arylsulphatase A (ASA) pseudodeficiency (PD) and Lafora bodies (LB) in a patient with non progressive myoclonic epilepsy'. Together they form a unique fingerprint.

Cite this