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Arylsulfatase A Pseudodeficiency and Lafora Bodies in a Patient with Progressive Myoclonic Epilepsy
Author(s) -
Tinuper P.,
Plazzi G.,
Monari L.,
Sangiorgi S.,
Pellissier J.F.,
Cerullo A.,
Provini F.,
Capellari S.,
Baruzzi A.,
Lugaresi E.,
Montagna P.
Publication year - 1994
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.1994.tb02440.x
Subject(s) - lafora disease , progressive myoclonus epilepsy , myoclonic epilepsy , myoclonus , medicine , epilepsy , arylsulfatase , arylsulfatase a , pathology , endocrinology , anesthesia , psychiatry , metachromatic leukodystrophy , enzyme , biology , biochemistry , phosphatase
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.