{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T10:42:49Z","timestamp":1697884969817},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":6070,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1988,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Abnormalities of GM<jats:sub>2<\/jats:sub> ganglioside metabolism owing to hexosaminidase A (Hex A) deficiency have been associated with ALS phenotypes. The clinical features described in these ALS patients with Hex A deficiency include early onset, positive family history, and\/or long disease duration. In an attempt to determine prospectively the incidence of Hex A deficiency within an ALS population, the records of The Mount Sinai Medical Center ALS Clinic were reviewed to select those patients with \u201catypical\u201d ALS (total N = 52), i.e. onset before age 35, positive family history, and\/or disease duration greater than 90 months. The control group (total N = 50), \u201ctypical\u201d ALS patients, did not fulfill any of these historical criteria. Hex A activity determined in isolated peripheral blood leukocytes was normal in all typical ALS patients (mean 67.3%). Hex A deficiency was not found in any atypical ALS patients. Thus, Hex A deficiency apparently is an unusual etiology of typical or atypical ALS but is of medical and genetic importance in individual families.<\/jats:p>","DOI":"10.1002\/mus.880110307","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T05:14:12Z","timestamp":1104556452000},"page":"227-230","source":"Crossref","is-referenced-by-count":11,"title":["Hexosaminidase a activity and amyotrophic lateral sclerosis"],"prefix":"10.1002","volume":"11","author":[{"given":"Mark","family":"Gudesblatt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark D.","family":"Ludman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey A.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Chester","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory A.","family":"Grabowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James T.","family":"Caroscio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160105"},{"key":"e_1_2_1_3_2","first-page":"34","volume-title":"Research Progress in Motor Neuron Disease","author":"Caroscio JT","year":"1984"},{"key":"e_1_2_1_4_2","first-page":"31","article-title":"Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotrype","volume":"1","author":"Jellinger K","year":"1982","journal-title":"Clin Neuropathol"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.11.1012"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.11.1453"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110103"},{"key":"e_1_2_1_8_2","first-page":"159","volume-title":"Human Motor Neuron Diseases","author":"Johnson WG","year":"1982"},{"key":"e_1_2_1_9_2","first-page":"215","volume-title":"Genetics of Neurological and Psychiatric Disorders","author":"Johnson WG","year":"1983"},{"key":"e_1_2_1_10_2","first-page":"121A","article-title":"Type VI GM2\u2010gangliosidosis: an amyotrophic lateral sclerosis pheocopy","volume":"27","author":"Kaback M","year":"1979","journal-title":"Clin Res"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170413"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.11.1397"},{"key":"e_1_2_1_13_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_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.3.380"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.11.1117"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500020048008"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198410113111509"},{"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"},{"key":"e_1_2_1_20_2","first-page":"611","article-title":"An amyotrophic lateral sclerosis like syndrome with hexosaminidase A deficiency: a new type of GM2\u2010gangliosidosis","volume":"29","author":"Yaffe MG","year":"1979","journal-title":"Neurology (Minneap)"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880110307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880110307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T00:04:05Z","timestamp":1697846645000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880110307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,3]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1988,3]]}},"alternative-id":["10.1002\/mus.880110307"],"URL":"https:\/\/doi.org\/10.1002\/mus.880110307","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,3]]}}}