{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T12:03:34Z","timestamp":1784289814118,"version":"3.55.0"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>\n                    Hereditary transthyretin amyloidosis (ATTRv) is a progressive, life-threatening disease caused by mutations in the\n                    <jats:italic>TTR<\/jats:italic>\n                    gene. It is characterized by marked clinical heterogeneity, and diagnosis is often delayed. Here, we report the tortuous diagnostic process in a patient with late-onset ATTRv carrying a c.349G\u202f&amp;gt;\u202fT (p.Ala117Ser) mutation in the\n                    <jats:italic>TTR<\/jats:italic>\n                    gene. A 59-year-old man initially presented with distal numbness and weakness in both lower limbs, followed by hoarseness and cough. Over two years, he consulted multiple specialists for these predominant symptoms, but no definitive diagnosis was made. Electrocardiography revealed low limb lead voltages. Echocardiography showed increased echogenicity in the left ventricular posterolateral wall with wall thickness at the upper normal limit. With a strong clinical suspicion of transthyretin amyloidosis, 99mTc-pyrophosphate (PYP) scintigraphy demonstrated cardiac amyloid deposition, and the diagnosis was ultimately confirmed by genetic testing, which identified a heterozygous Ala117Ser mutation in the\n                    <jats:italic>TTR<\/jats:italic>\n                    gene. This case illustrates that in middle-aged and older patients with progressive peripheral neuropathy of unclear cause, atypical symptoms such as hoarseness and cough may serve as important clues to ATTRv. Prompt integration of cardiac imaging and genetic screening can help avoid diagnostic delay.\n                  <\/jats:p>","DOI":"10.3389\/fmed.2026.1896915","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:10:14Z","timestamp":1784286614000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: When peripheral neuropathy meets hoarseness and cough: a diagnostic challenge and insights from a case of late-onset ATTRv"],"prefix":"10.3389","volume":"13","author":[{"given":"Lei","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology, The Central Hospital of Xiangtan (The Affiliated Hospital of Hunan University)","place":["Xiangtan, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Central Hospital of Xiangtan (The Affiliated Hospital of Hunan University)","place":["Xiangtan, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Central Hospital of Xiangtan (The Affiliated Hospital of Hunan University)","place":["Xiangtan, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Central Hospital of Xiangtan (The Affiliated Hospital of Hunan University)","place":["Xiangtan, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Central Hospital of Xiangtan (The Affiliated Hospital of Hunan University)","place":["Xiangtan, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuting","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Central Hospital of Xiangtan (The Affiliated Hospital of Hunan University)","place":["Xiangtan, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Long","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Central Hospital of Xiangtan (The Affiliated Hospital of Hunan University)","place":["Xiangtan, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","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 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management of transthyretin amyloidosis","volume":"47","author":"Hawkins","year":"2015","journal-title":"Ann Med"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"S14","DOI":"10.1097\/wco.0000000000000289","article-title":"First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy","volume":"29","author":"Adams","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1161\/circulationaha.118.038169","article-title":"Natural history, quality of life, and outcome in cardiac transthyretin amyloidosis","volume":"140","author":"Lane","year":"2019","journal-title":"Circulation"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"S27","DOI":"10.1097\/wco.0000000000000290","article-title":"Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis","volume":"29","author":"Obici","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1186\/s13023-021-01706-7","article-title":"Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups","volume":"16","author":"Rintell","year":"2021","journal-title":"Orphanet J Rare Dis"}],"container-title":["Frontiers in 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