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 contribution||Arylsulphatase A (ASA) pseudodeficiency (PD) and Lafora bodies (LB) in a patient with non progressive myoclonic epilepsy|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 1992|
ASJC Scopus subject areas
- Clinical Neurology