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Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.
- Source :
-
Epilepsia [Epilepsia] 1994 Mar-Apr; Vol. 35 (2), pp. 332-5. - Publication Year :
- 1994
-
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.
Details
- Language :
- English
- ISSN :
- 0013-9580
- Volume :
- 35
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Epilepsia
- Publication Type :
- Academic Journal
- Accession number :
- 7908874
- Full Text :
- https://doi.org/10.1111/j.1528-1157.1994.tb02440.x