Article
Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.
Epilepsia - 1 Jan 2000
Tinuper P, Plazzi G, Monari L, Sangiorgi S, Pellissier J F, Cerullo A, Provini F, Capellari S, Baruzzi A, Lugaresi E
Abstract excerpt
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...
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