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Myoclonic epilepsy of lafora and arylsulphatase a deficiency in the same patient
Author(s) -
Bertagnolio B.,
Girotti F.,
Pelucchetti D.,
Pandolfo M.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01802043
Subject(s) - cerebroside , lafora disease , endocrinology , medicine , heterozygote advantage , compound heterozygosity , loss of heterozygosity , gene , biology , genetics , genotype , mutation , biochemistry , enzyme , allele , phosphatase
Summary 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 [ 14 C]cerebroside sulphate taken up by skin fibroblasts from the patient remained unmetabolized after a 24 h 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.