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CONTENT AND COMPOSITION OF URINARY GLYCOSAMINOGLYCANS IN THE PATIENTS WITH MYOCLONUS EPILEPSY WITH AND WITHOUT LAFORA BODIES
Author(s) -
Constantopoulos George,
Dekaban Anatole S.,
Steusing Jan K.,
Eldridge Roswell
Publication year - 1977
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1977.tb01436.x
Subject(s) - myoclonus , progressive myoclonus epilepsy , epilepsy , urinary system , lafora disease , glycosaminoglycan , composition (language) , neuroscience , medicine , psychology , endocrinology , chemistry , anatomy , biochemistry , art , literature , phosphatase , phosphorylation
Content, composition and molecular weight distribution of the urinary glycosaminoglycans (GAG) were determined in five patients with progressive myoclonus epilepsy (PME). In one patient (Family B) this syndrome was associated with cerebral Lafora bodies and in four siblings of Family A, no Lafora bodies were present in brain biopsy. Only one of the five patients had a moderate increase of urinary GAG excretion as expressed by 24‐h output or creatinine. The heparan sulfate component of the GAG was moderately increased in two other patients. The molecular weight distribution of the urinary GAG was normal. The results do not support the contention that urinary GAG excretion is abnormal in PME. Among nine lysosomal enzymes in leucocytes, only the activity of α‐mannosidase was increased 3‐fold in the four siblings.