{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:03:22Z","timestamp":1771002202840,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,3,28]],"date-time":"2003-03-28T00:00:00Z","timestamp":1048809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with adult hexosaminidase A (Hex A) deficiency may have clinical manifestations similar to amyotrophic lateral sclerosis (ALS). Mutations in the hexosaminidase A (<jats:italic>HEXA<\/jats:italic>) gene are common in the Jewish Ashkenazi population in Israel. Serum samples of 115 Israeli patients with sporadic ALS were screened for enzymatic activity to detect \u201cenzyme\u2010based carriers.\u201d Fifteen samples with low (&lt; 50%) enzymatic activity were subjected to mutation analysis, which included the two common mutations in the <jats:italic>HEXA<\/jats:italic> gene among Ashkenazi Jews (+1278TATC and IVS12+1G\u2192C). Three \u201cenzymatic carrier\u201d patients of Moroccan origin were checked for two additional mutations (\u0394F304\/305 and Arg170\u2192Gln), specific to this ethnic group. Two \u201cenzymatic carrier\u201d patients of Iraqi origin were analyzed for the mutation Gly250\u2192Val, specific to this population. The mutation Gly 269\u2192Ser was screened in carriers of Ashkenazi origin only (<jats:italic>n<\/jats:italic> = 10). The only abnormalities found were heterozygous +1278TATC mutations in two Ashkenazi patients. Their clinical presentation was not different from that usually encountered in ALS. The frequency of mutations in the <jats:italic>HEXA<\/jats:italic> gene among Israeli ALS patients was not higher than in the healthy Israeli population. Therefore, Hex A deficiency seems to be a very unlikely cause of an ALS\u2010mimic syndrome. Muscle Nerve 28: 109\u2013112, 2003<\/jats:p>","DOI":"10.1002\/mus.10371","type":"journal-article","created":{"date-parts":[[2003,6,12]],"date-time":"2003-06-12T10:11:10Z","timestamp":1055412670000},"page":"109-112","source":"Crossref","is-referenced-by-count":23,"title":["Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis"],"prefix":"10.1002","volume":"28","author":[{"given":"Vivian E.","family":"Drory","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Birnbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leah","family":"Peleg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boleslaw","family":"Goldman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amos D.","family":"Korczyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,3,28]]},"reference":[{"key":"e_1_2_7_2_2","unstructured":"BelshJM JohnsonWG WuPM SchwarzKO.Pure ALS phenotype in a patient with hexosaminidase A deficiency (adult Tay\u2010Sachs disease). Eighth International Symposium on ALS\/ MND Glasgow UK 1997."},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1080\/146608200300079536"},{"key":"e_1_2_7_4_2","first-page":"371","article-title":"Identification and rapid detection of three Tay\u2010Sachs mutations in the Moroccan Jewish population","volume":"51","author":"Druker L","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_2","first-page":"2839","volume-title":"The metabolic and molecular basis of inherited disease","author":"Gravel RA","year":"1995"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880110307"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.50.6.687"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870090325"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110103"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.270.19.2307"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1984.04050140055023"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240316"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570512.x"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711376"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170413"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430513"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2522679"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240123"},{"key":"e_1_2_7_19_2","doi-asserted-by":"crossref","first-page":"10927","DOI":"10.1016\/S0021-9258(18)60406-5","article-title":"Natural history and inherited disorders of a lysosomal enzyme, beta\u2010hexosaminidase","volume":"264","author":"Neufeld EF","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00240-7"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.2.568"},{"key":"e_1_2_7_22_2","first-page":"698","article-title":"Frequency of three Hex A mutant alleles among Jewish and non\u2010Jewish carriers identified in a Tay\u2010Sachs screening program","volume":"47","author":"Paw BH","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_23_2","first-page":"65","article-title":"Detection of Tay\u2010Sachs disease carriers among individuals with thermolabile hexosaminidase","volume":"32","author":"Peleg L","year":"1994","journal-title":"Eur J Chem Clin Biochem"},{"key":"e_1_2_7_24_2","first-page":"475","article-title":"Tay\u2010Sachs disease and population carrier screening: biochemical, molecular and social aspects","volume":"129","author":"Peleg L","year":"1995","journal-title":"Harefuah"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(88)90058-5"},{"key":"e_1_2_7_26_2","first-page":"3","volume-title":"Amyotrophic lateral sclerosis","author":"Swash M","year":"2000"},{"key":"e_1_2_7_27_2","first-page":"S611","article-title":"An amyotrophic lateral sclerosis\u2010like syndrome with hexosaminidase A deficiency: a new type of GM2 gangliosidosis","volume":"29","author":"Yaffe MG","year":"1979","journal-title":"Neurology"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.10371","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.10371","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T18:00:31Z","timestamp":1696701631000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.10371"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,28]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["10.1002\/mus.10371"],"URL":"https:\/\/doi.org\/10.1002\/mus.10371","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,28]]}}}