{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T10:10:34Z","timestamp":1774951834126,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":5029,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Abnormality in the \u03b2\u2010hexosaminidase \u03b1 gene underlying the clinical phenotype of a Lebanese patient with a juvenile form of Tay\u2010Sachs disease has been studied. Clinical features were progressive spasticity, ataxia, and cognitive decline. The protein coding sequence of several \u03b2\u2010hexosaminidase \u03b1\u2010chain complementary DNAs isolated by polymerase chain reaction was completely normal except for a G\u2010to\u2010A transition at nucleotide position 1511 within exon 13, which resulted in substitution of the normal arginine 504 (CGC) with histidine (CAC). Although the patient was from a first\u2010cousin marriage, she was heterozygous for this mutation. The abnormality in the other allele, which is carried by the father, was not identified, except that it is neither of the two mutations responsible for the infantile Jewish Tay\u2010Sachs disease. Biosynthetic and immunoprecipitation studies in cultured fibroblasts showed synthesis of the \u03b1\u2010chain precursor, but the mature form of the \u03b1\u2010subunit was not detected.<\/jats:p>","DOI":"10.1002\/ana.410290120","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T11:55:36Z","timestamp":1104580536000},"page":"104-107","source":"Crossref","is-referenced-by-count":11,"title":["Genetic cause of a juvenile form of tay\u2010sachs disease in a lebanese child"],"prefix":"10.1002","volume":"29","author":[{"given":"Rose\u2010Mary N.","family":"Boustany","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akemi","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junji","family":"Nishimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiko","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1807","volume-title":"The metabolic basis of inherited disease","author":"Sandhoff K","year":"1989"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.3754980"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)47738-1"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/333085a0"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.11.3955"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)37323-X"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(88)81247-6"},{"key":"e_1_2_1_9_2","first-page":"161","article-title":"Genetic variation of Tay\u2010Sachs disease: Tay\u2010Sachs disease and Sandhoff's disease in French Canadians, Juvenile Tay\u2010Sachs disease in Lebanese Canadians and a Tay\u2010Sachs screening program in the French\u2010Canadian population","volume":"18","author":"Anderman E","year":"1977","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_11_2","first-page":"329","article-title":"GM2\u2010gangliosidosis B1 variant: Analysis of \u03b2\u2010hexosaminidase \u03b1 gene abnormalities in seven patients","volume":"46","author":"Tanaka A","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)85585-0"},{"key":"e_1_2_1_13_2","first-page":"437","article-title":"The mutation in a Lebanese child with late\u2010onset GM2\u2010gangliosidosis is different from that of Jewish adult Tay\u2010Sachs disease","volume":"26","author":"Boustany R\u2010M","year":"1989","journal-title":"Ann Neurol"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2522679"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.7.2413"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)38870-2"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410290120","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410290120","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410290120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T21:27:07Z","timestamp":1693690027000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410290120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,1]]}},"alternative-id":["10.1002\/ana.410290120"],"URL":"https:\/\/doi.org\/10.1002\/ana.410290120","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,1]]}}}