{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:12:43Z","timestamp":1763035963655},"reference-count":45,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":8560,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1981,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A patient with chronic G<jats:sub>M1<\/jats:sub> gangliosidosis was studies enzymatically and biochemically. Leukocyte acid \u03b2\u2010galactosidase activity was severely deficient. In brain and liver, the 4\u2010methylumbelliferyl \u03b2\u2010galactosidase with acidic pH optimum and lactosylceramidase II were deficient while other hydrolases were present in normal amounts, including sialidase determined with N\u2010acetylneuramin\u2010lactose and fetuin as substrates. Nautral \u03b2\u2010galatosidase in liver was incerased up to fourfold over the control. Corresponding to the pathological findings, G<jats:sub>M1<\/jats:sub> ganglioside sialic acid was increased in the basal ganglia to 57% of the total (normal, 12 to 16%), accounting for the rise in total ganglioside to 180% of normal in this region. Only slight to moderate elevations in the proportion of G<jats:sub>M1<\/jats:sub> ganglioside were noted in the cerebral cortex and white matter, without major increase in total ganglioside. Elevated asislo G<jats:sub>M1<\/jats:sub> ganglioside was also confined to the basal ganglia. There was no increase in hepatic glycoproteins or in keratan sulfate\u2010like materials. This is the only known patient with chronic G<jats:sub>M1<\/jats:sub> gangliosidosis in whom abnormal accumulation of G<jats:sub>M1<\/jats:sub> ganglioside has been demonstrated in affected tissue and sialidase deficiency has been excluded as the primary genetic defect.<\/jats:p>","DOI":"10.1002\/ana.410090510","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T13:25:41Z","timestamp":1104585941000},"page":"476-483","source":"Crossref","is-referenced-by-count":33,"title":["Chronic G<sub>M1<\/sub> gangliosidosis presenting as dystonia: II. 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