Arylsulfatase A Pseudodeficiency and Lafora Bodies in a Patient with Progressive Myoclonic Epilepsy
- 1 March 1994
- Vol. 35 (2) , 332-335
- https://doi.org/10.1111/j.1528-1157.1994.tb02440.x
Abstract
Summary: 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.Keywords
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