title: Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.
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.
authors.affiliation: Neurologic Institute, University of Bologna, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Tinuper
authors.forename: G
authors.initials: G
authors.lastname: Plazzi
authors.forename: L
authors.initials: L
authors.lastname: Monari
authors.forename: S
authors.initials: S
authors.lastname: Sangiorgi
authors.forename: J F
authors.initials: JF
authors.lastname: Pellissier
authors.forename: A
authors.initials: A
authors.lastname: Cerullo
authors.forename: F
authors.initials: F
authors.lastname: Provini
authors.forename: S
authors.initials: S
authors.lastname: Capellari
authors.forename: A
authors.initials: A
authors.lastname: Baruzzi
authors.forename: E
authors.initials: E
authors.lastname: Lugaresi
mesh_terms: D000328:Adult; D001706:Biopsy; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D012867:Skin / Q000473:pathology; D013545:Sweat Glands / Q000473:pathology
chemical_list: D002553:Cerebroside-Sulfatase