Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.

doi:10.1111/j.1528-1157.1994.tb02440.x

Back to search

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 le...

Topics

Adult
Biopsy
Cerebroside-Sulfatase
Epilepsies, Myoclonic
Female
Genotype
Humans
Inclusion Bodies
Skin
Sweat Glands

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.