{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:35:15Z","timestamp":1782927315653,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":7403,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1984,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Six patients from three families developed adult GM<jats:sub>2<\/jats:sub> gangliosidosis resulting from severe \u03b2\u2010hexosaminidase A deficiency. The clinical picture varied between and within families and included spinocerebellar, various motor neuron, and cerebellar connection syndromes. Psychosis appeared in each family. Involvement of three generations was recorded in one family. The phenotype of adult GM<jats:sub>2<\/jats:sub> gangliosidosis is variable and cannot form a basis for genetic classification. Detailed hexosaminidase determinations in eight patients from five families revealed all patients to have minor quantities of hexosaminidase A (about 15% of normal), with marked increase in hexosaminidase I isozyme.<\/jats:p>","DOI":"10.1002\/ana.410160105","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:10:45Z","timestamp":1104599445000},"page":"14-20","source":"Crossref","is-referenced-by-count":96,"title":["Clinical and genetic variations in the syndrome of adult GM<sub>2<\/sub> gangliodosis resulting from hexosaminidase a deficiency"],"prefix":"10.1002","volume":"16","author":[{"given":"Z.","family":"Argov","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Navon","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":"900","article-title":"Ganglioside GM2 \n                  N\u2010acetyl\u2010\u03b2\u2010D\u2010galactosaminidase activity in cultured fibroblasts of late infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level","volume":"35","author":"Conzelmann H","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_2","volume-title":"Greenfield's Neuropathology","author":"Crome L","year":"1976"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.11.1453"},{"key":"e_1_2_1_5_2","first-page":"155","article-title":"Prognosis of lateonset hexosaminidase deficiency with spinal muscular atrophy","volume":"33","author":"Johnson WG","year":"1983","journal-title":"Neurology (NY)"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110103"},{"key":"e_1_2_1_7_2","first-page":"121A","article-title":"Type VI gangliosidosis: an amyotrophic lateral sclerosis phenocopy (abstract)","volume":"27","author":"Kaback M","year":"1979","journal-title":"Clin Res"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01609.x"},{"key":"e_1_2_1_9_2","first-page":"81A","article-title":"Singnificance of hexosaminidase A deficiency in adults (abstract)","volume":"32","author":"Kolodny EH","year":"1982","journal-title":"Neurology (NY)"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90189-9"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.11.1397"},{"key":"e_1_2_1_12_2","volume-title":"Lysosomal Diseases of the Nervous System","author":"Navon R"},{"key":"e_1_2_1_13_2","first-page":"339","article-title":"Low levels of hexosaminidase A in healthy individuals with apparent deficiency of this enzyme","volume":"28","author":"Navon R","year":"1976","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_2","first-page":"287","article-title":"Apparent deficiency of hexosaminidase A in healthy members of a family with Tay\u2010Sachs disease","volume":"25","author":"Navon R","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_2","volume-title":"The Metabolic Basis of Inherited Disease","author":"O'Brien JS","year":"1983"},{"key":"e_1_2_1_16_2","first-page":"259","article-title":"Diagnosis of Tay\u2010Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells","volume":"7","author":"Padeh B","year":"1971","journal-title":"Isr J Med Sci"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500020048008"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00390234"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.787"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410160105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410160105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T08:07:05Z","timestamp":1697789225000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410160105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,7]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,7]]}},"alternative-id":["10.1002\/ana.410160105"],"URL":"https:\/\/doi.org\/10.1002\/ana.410160105","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,7]]}}}