Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.
A family is described with three affected brothers, two of whom were examined, born to consanguineous parent, who in early adult life began to experience ataxia, intention myoclonus, and progressive visual failure. The brothers examined had cherry red spots at the maculae and cataracts. They were of normal intelligence. The intention myoclonus responded partially to treatment with clonazepam and pheneturide, but not to 5-hydroxytryptophan in combination with carbidopa or to sodium valproate. Studies in one patient showed the excretion of large quantities of sialylated oligosaccharides in the urine. Both patients showed deficient sialidase activity in their cultured fibroblasts. Further studies on cultured skin fibroblasts revealed increased electrophoretic mobility of six glycoprotein enzymes that was returned approximately to normal by treatment with sialidase. The clinical and biochemical findings indicate that these patients are further cases of the newly described condition sialidosis type 1.
D000328:Adult; D002386:Cataract / Q000235:genetics*; D004596:Electroretinography; D005071:Evoked Potentials; D005128:Eye Diseases / Q000201:enzymology / Q000235:genetics*; D005654:Fundus Oculi; D006023:Glycoproteins / Q000032:analysis*; D006801:Humans; D009207:Myoclonus / Q000201:enzymology / Q000235:genetics*; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D010375:Pedigree; D013003:Somatosensory Cortex / Q000503:physiopathology; D013577:Syndrome
D006023:Glycoproteins; D009844:Oligosaccharides; D009439:Neuraminidase