{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:35:19Z","timestamp":1782927319920,"version":"3.54.5"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":7494,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1984,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 10\u2010year\u2010old boy developed progressive dystonia and dementia. His symptoms had begun at age 2\u00bd years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric. He had dysphagia and urinary incontinence, and functioned at a 4\u2010year\u2010old level of mental development. The mean percentages of \u03b2\u2010hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9,9.8, and 13.0%, respectively. These values are higher than in Tay\u2010Sachs disease but are similar to levels seen in late\u2010onset or adult cases of G<jats:sub>M2<\/jats:sub> gangliosidosis. This patient appears to represent a new phenotype of juvenile G<jats:sub>M2<\/jats:sub> gangliosidosis having dystonia as the dominant symptom.<\/jats:p>","DOI":"10.1002\/ana.410150408","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:08:31Z","timestamp":1104599311000},"page":"348-352","source":"Crossref","is-referenced-by-count":42,"title":["Juvenile progressive dystonia: A new phenotype of G<sub>M2<\/sub> Gangliosidosis"],"prefix":"10.1002","volume":"15","author":[{"given":"David","family":"Meek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonhard S.","family":"Wolfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederick","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"161","article-title":"Genetic variants of Tay\u2010Sachs disease: Tay\u2010Sachs disease and Sandhoff's disease in French Canadians; 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