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 language | English |
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Pages (from-to) | 332-335 |
Number of pages | 4 |
Journal | Epilepsia |
Volume | 35 |
Issue number | 2 |
Publication status | Published - 1994 |
Keywords
- Arylsulfatase A pseudodeficiency
- Epilepsy
- Lafora bodies
- Neurologic manifestations
- Progressive myoclonic epilepsy
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)