{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T06:50:22Z","timestamp":1699771822093},"reference-count":29,"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":9472,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1978,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A new form of hexosaminidase deficiency disease is characterized clinically by mild, juvenile\u2010onset, very slowly progressive cerebellar ataxia with macular cherry\u2010red spots and absence of other findings. Biochemically there is striking hexosaminidase deficiency in serum, leukocytes, and fibroblasts. Hexosaminidase B appears absent, but hexosaminidase A\u2013like and S\u2013like activity is present on strach\u2010gel electrophoresis.<\/jats:p><jats:p>We studied hexosaminidase in leukocytes and serum from members of an affected patient's family and traced the enzyme defect through four generations. Leukocyte heat\u2010stabile hexosaminidase in obligate and presumptive carriers was depressed both in specific activity (nanomoles per milligram of protein per hour) and as a percentage of total hexosaminidase. The carrier state was expressed in serum, but overlap with controls made this test unreliable. The similarity of these carriers to carriers of Sandhoff disease suggests that the disorders may be closely related, perhaps as allelic mutations of the hexosaminidase \u03b2 subunit. Those involved with screening for Tay\u2010Sachs disease should be aware that persons with an increased percentage of hexosaminidase A\u2014that is, a decreased heat\u2010stabile fraction\u2014may be carriers of hexosaminidase deficiency diseases.<\/jats:p>","DOI":"10.1002\/ana.410040503","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:46:28Z","timestamp":1104597988000},"page":"399-403","source":"Crossref","is-referenced-by-count":15,"title":["Inheritance of the enzyme defect in a new hexosaminidase deficiency disease"],"prefix":"10.1002","volume":"4","author":[{"given":"William G.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abe 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