{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:55:26Z","timestamp":1781614526425,"version":"3.54.5"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T00:00:00Z","timestamp":1772755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["eNeurologicalSci"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1016\/j.ensci.2026.100607","type":"journal-article","created":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T05:50:20Z","timestamp":1772862620000},"page":"100607","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia"],"prefix":"10.1016","volume":"43","author":[{"given":"Hosna","family":"Elshony","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakan","family":"Almuhanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled O.","family":"Albazli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabia","family":"Muddassir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ensci.2026.100607_bb0005","article-title":"Amyotrophic lateral sclerosis","volume":"3","author":"Hardiman","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"issue":"3","key":"10.1016\/j.ensci.2026.100607_bb0010","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S1474-4422(13)70036-X","article-title":"Controversies and priorities in amyotrophic lateral sclerosis","volume":"12","author":"Turner","year":"2013","journal-title":"Lancet Neurol."},{"issue":"9","key":"10.1016\/j.ensci.2026.100607_bb0015","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1136\/jnnp-2014-308724","article-title":"Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments","volume":"86","author":"Sekijima","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"12","key":"10.1016\/j.ensci.2026.100607_bb0020","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1016\/S1474-4422(11)70246-0","article-title":"Familial amyloid polyneuropathy","volume":"10","author":"Plant\u00e9-Bordeneuve","year":"2011","journal-title":"Lancet Neurol."},{"issue":"9","key":"10.1016\/j.ensci.2026.100607_bb0025","first-page":"2686","article-title":"Motor neuron involvement in TTR-FAP: a diagnostic pitfall","volume":"267","author":"Rivaud","year":"2020","journal-title":"J. Neurol."},{"issue":"5","key":"10.1016\/j.ensci.2026.100607_bb0030","first-page":"E11","article-title":"Transthyretin amyloidosis presenting as progressive motor neuropathy mimicking ALS","volume":"59","author":"Sinha","year":"2019","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1016\/j.ensci.2026.100607_bb0035","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1080\/146608200300079536","article-title":"El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis","volume":"1","author":"Brooks","year":"2000","journal-title":"Amyotroph Lateral Scler. Other. Motor Neuron Disord."},{"issue":"1","key":"10.1016\/j.ensci.2026.100607_bb0040","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1056\/NEJMoa1716153","article-title":"Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis","volume":"379","author":"Adams","year":"2018","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.ensci.2026.100607_bb0045","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1056\/NEJMoa1716793","article-title":"Inotersen treatment for patients with hereditary transthyretin amyloidosis","volume":"379","author":"Benson","year":"2018","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.ensci.2026.100607_bb0050","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/jns.12153","article-title":"\u201cRed-flag\u201d symptom clusters in transthyretin familial amyloid polyneuropathy","volume":"21","author":"Concei\u00e7\u00e3o","year":"2016","journal-title":"J. Peripher. Nerv. Syst."},{"issue":"7","key":"10.1016\/j.ensci.2026.100607_bb0055","first-page":"657","article-title":"Consanguineous marriages: premarital screening and genetic counseling in Saudi Arabia","volume":"39","author":"Alharbi","year":"2018","journal-title":"Saudi Med. J."},{"issue":"6","key":"10.1016\/j.ensci.2026.100607_bb0060","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCHEARTFAILURE.116.003815","article-title":"Design and rationale of the phase 3 ATTR-ACT clinical trial (tafamidis in transthyretin cardiomyopathy)","volume":"10","author":"Maurer","year":"2017","journal-title":"Circ. Heart Fail."},{"issue":"10","key":"10.1016\/j.ensci.2026.100607_bb0065","first-page":"1309","article-title":"Multifocal motor neuropathy: clinical features, pathogenesis, diagnostic criteria and therapy","volume":"254","author":"Gorson","year":"2007","journal-title":"J. Neurol."},{"issue":"1","key":"10.1016\/j.ensci.2026.100607_bb0070","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1007\/s13311-015-0391-5","article-title":"Efficacy of intravenous immunoglobulin in neurological diseases","volume":"13","author":"L\u00fcnemann","year":"2016","journal-title":"Neurotherapeutics"},{"issue":"1","key":"10.1016\/j.ensci.2026.100607_bb0075","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/s40246-021-00351-2","article-title":"Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining","volume":"15","author":"Abouelhoda","year":"2021","journal-title":"Hum. Genom."}],"container-title":["eNeurologicalSci"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405650226000043?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2405650226000043?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:05:32Z","timestamp":1781611532000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2405650226000043"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":15,"alternative-id":["S2405650226000043"],"URL":"https:\/\/doi.org\/10.1016\/j.ensci.2026.100607","relation":{},"ISSN":["2405-6502"],"issn-type":[{"value":"2405-6502","type":"print"}],"subject":[],"published":{"date-parts":[[2026,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia","name":"articletitle","label":"Article Title"},{"value":"eNeurologicalSci","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ensci.2026.100607","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"100607"}}