Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.
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.
Tinuper
P
P
Neurologic Institute, University of Bologna, Italy.
Plazzi
G
G
Monari
L
L
Sangiorgi
S
S
Pellissier
J F
JF
Cerullo
A
A
Provini
F
F
Capellari
S
S
Baruzzi
A
A
Lugaresi
E
E
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
D002553:Cerebroside-Sulfatase