Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.
Very low levels of arylsulphatase A were found in a young patient with the clinical features of Lafora disease, confirmed by muscle biopsy. The deficiency was shown both in leukocytes and cultured fibroblasts. A cerebroside sulphate loading showed that 93% of [14C]cerebroside sulphate taken up by skin fibroblasts from the patient remained unmetabolized after a 24h pulse, ruling out pseudo-arylsulphatase A deficiency. In the healthy parents and siblings of the patient, biochemical data suggested heterozygosity for arylsulphatase A deficiency. The apparent co-inheritance of arylsulphatase A deficiency and Lafora disease in this family might be the consequence of genetic linkage between the two genes.
Bertagnolio
B
B
Division of Biochemistry and Genetics of the Nervous System, Istituto Neurologico C. Besta, Milano, Italy.
Girotti
F
F
Pelucchetti
D
D
Pandolfo
M
M
D000293:Adolescent; D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics; D002478:Cells, Cultured; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009132:Muscles / Q000648:ultrastructure; D013429:Sulfatases / Q000172:deficiency*; D013433:Sulfoglycosphingolipids / Q000378:metabolism / Q000652:urine; D001616:beta-Galactosidase / Q000378:metabolism
D013433:Sulfoglycosphingolipids; D013429:Sulfatases; D001192:Arylsulfatases; D001616:beta-Galactosidase