{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T04:09:47Z","timestamp":1749096587673,"version":"3.41.0"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"5-6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:p>Introduction \u2013 Allgrove syndrome or\ntriple A (3A) syndrome is a multisystem\ndisorder classically defined as the triad of\nesophageal achalasia, alacrimia and adrenal\ninsufficiency due to adrenocorticotropic\nhormone insensitivity. Approximately one\nthird of patients experience neurological\ndysfunction, including peripheral and\nautonomic nervous system dysfunction,\nleading some authors to use the term 4A\nsyndrome (achalasia, alacrimia, adrenal\ninsufficiency and autonomic abnormalities).\nSince its first description in 1978, knowledge\nof its clinical and genetic features has\nincreased; however, the current literature is\nlimited to case reports and case reviews.\nMethods \u2013 A 20-year-old male patient was\nadmitted to the clinic with the following\ncomplaints: difficulty in walking, tingling\nsensation in the feet and weakness of\n1.5 years\u2019 duration. He had undergone\nendoscopy and balloon dilatation surgery 2\nyears previously.\nResults \u2013 We performed whole exome analysis on the patient and detected the c464G&gt;A\np.(Arg155His) variant in the AAAS gene in\nhomozygous form. It was interpreted as \u2018pathogenic\u2019 according to the ACMG 2015 criteria:\nhomozygous pathogenic variants in this gene\ncorrespond to the phenotype \u2018AchalasiaAddisonism-Alacrimia\u2019 (OMIM:231550).\nConclusion \u2013 We present this case to\ndraw attention to the fact that patients may\npresent with late-onset neurological findings\nwithout the classic Allgrove syndrome triad.<\/jats:p>","DOI":"10.18071\/isz.78.0207","type":"journal-article","created":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T07:42:11Z","timestamp":1749022931000},"page":"207-210","source":"Crossref","is-referenced-by-count":0,"title":["A triple A syndrome with neurological findings; c464G&gt;A mutation in the AAAS gene"],"prefix":"10.18071","volume":"78","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5433-2006","authenticated-orcid":false,"given":"Pinar Bengi","family":"Boz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8594-7540","authenticated-orcid":false,"given":"Ay\u015fe Filiz","family":"Ko\u00e7","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6027-8464","authenticated-orcid":false,"given":"Muhammed Burak","family":"Bereketo\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7411","published-online":{"date-parts":[[2025]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/a-triple-a-syndrome-with-neurological-findings-c464ga-mutation-in-the-aaas-gene\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T07:42:14Z","timestamp":1749022934000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/a-triple-a-syndrome-with-neurological-findings-c464ga-mutation-in-the-aaas-gene"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":0,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2025]]},"published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.78.0207","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]}}}