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The values of \u03b2\u2010hexosaminidase activities studied in plasma, leukocytes, and fibroblasts obtained using two different substrates (MUG\u2010NAc and MUG\u2010NAc\u20106\u2010S) were significantly reduced but higher than in Tay\u2013Sachs disease and similar to those found in the juvenile chronic form of GM2 gangliosidosis. With anticholinergic therapy, for 1.5 years, the dystonic symptoms did not progress and the boy can still care for himself and attend school. The description of another case of the disease. clinically expressed as dystonia, corroborates the existence of dystonic phenotype of GM2 gangliosidosis.<\/jats:p>","DOI":"10.1002\/mds.870070113","type":"journal-article","created":{"date-parts":[[2004,12,31]],"date-time":"2004-12-31T18:52:17Z","timestamp":1104519137000},"page":"64-67","source":"Crossref","is-referenced-by-count":32,"title":["Progressive dystonia symptomatic of juvenile GM2 gangliosidosis"],"prefix":"10.1002","volume":"7","author":[{"given":"Nardo","family":"Nardocci","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Bertagnolio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana","family":"Rumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Angelini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,12]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1807","volume-title":"The metabolic basis of inherited diseases","author":"Sandhoff K","year":"1989"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.11.1453"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110103"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060110058016"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.787"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.1.145"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291402"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"5155","DOI":"10.1016\/S0021-9258(18)83712-7","article-title":"Genetic cause of a juvenile form of Sandhoff disease","volume":"264","author":"Nakana T","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197007022830104"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01066.x"},{"key":"e_1_2_1_12_2","doi-asserted-by":"crossref","first-page":"7568","DOI":"10.1016\/S0021-9258(17)39645-X","article-title":"Evidence for two different active sites on human \u03b2\u2010hexasaminidase A. 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