{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T09:25:07Z","timestamp":1776849907996,"version":"3.51.2"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[1991,12,16]],"date-time":"1991-12-16T00:00:00Z","timestamp":692841600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[1991,12,16]],"date-time":"1991-12-16T00:00:00Z","timestamp":692841600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dev Neurosci"],"abstract":"<jats:p>Adult G&lt;sub&gt;M2&lt;\/sub&gt; gangliosidosis is a rare autosomal recessive disease with widely varying neurological and psychiatric manifestations. It is caused by marked deficiency, but not total absence, of \u03b2-hexosaminidase (Hex) A, due to a single base change in the \u03b1-subunit gene of Hex, resulting in a substitution of Ser for Gly at position 269 in the \u03b1-subunit of the enzyme. The same mutation was identified in all investigated patients, most of whom are Ashkenazi Jews. Among previously studied non-Jewish patients of unrelated families this mutation appears either homozygously or in compound heterozygosity with an unidentified \u03b1-subunit mutation, whereas all Ashkenazi patients are compound heterozygotes. In all but one of them the other mutation is one of the Ashkenazi infantile Tay-Sachs alleles, while in one 76-year-old woman with very mild neurological symptoms, it is an unidentified \u03b1-subunit mutation. At present, the little correlation that seems to exist between these different genotypes and the severity of the disease poses a serious dilemma for genetic counselors.<\/jats:p>","DOI":"10.1159\/000112200","type":"journal-article","created":{"date-parts":[[2007,11,30]],"date-time":"2007-11-30T09:43:15Z","timestamp":1196415795000},"page":"295-298","source":"Crossref","is-referenced-by-count":18,"title":["Molecular and Clinical Heterogeneity of Adult G\n                    <sub>M<\/sub>\n                    <sub>2<\/sub>\n                    Gangliosidosis"],"prefix":"10.1159","author":[{"given":"Ruth","family":"Navon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[1991,12,16]]},"container-title":["Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/112200","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000112200","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T08:26:53Z","timestamp":1776846413000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000112200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12,16]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000112200","archive":["Portico"],"relation":{},"ISSN":["0378-5866","1421-9859"],"issn-type":[{"value":"0378-5866","type":"print"},{"value":"1421-9859","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,12,16]]}}}