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 |
|---|---|
| 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)
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Cite this
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.