{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T19:21:02Z","timestamp":1793388062724,"version":"4.5.0"},"reference-count":111,"publisher":"BMJ","issue":"6","license":[{"start":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T00:00:00Z","timestamp":1646611200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney and the eyes. ATTRv is caused by mutations of the transthyretin (TTR) gene, leading to extracellular deposition of amyloid fibrils in multiple organs including the peripheral nervous system. Typically, the neuropathy associated with ATTRv is characterised by a rapidly progressive and disabling sensorimotor axonal neuropathy with early small-fibre involvement. Carpal tunnel syndrome and cardiac dysfunction frequently coexist as part of the ATTRv phenotype. Although awareness of ATTRv polyneuropathy among neurologists has increased, the rate of misdiagnosis remains high, resulting in significant diagnostic delays and accrued disability. A timely and definitive diagnosis is important, given the emergence of effective therapies which have revolutionised the management of transthyretin amyloidosis. TTR protein stabilisers diflunisal and tafamidis can delay the progression of the disease, if treated early in the course. Additionally, TTR gene silencing medications, patisiran and inotersen, have resulted in up to 80% reduction in TTR production, leading to stabilisation or slight improvement of peripheral neuropathy and cardiac dysfunction, as well as improvement in quality of life and functional outcomes. The considerable therapeutic advances have raised additional challenges, including optimisation of diagnostic techniques and management approaches in ATTRv neuropathy. This review highlights the key advances in the diagnostic techniques, current and emerging management strategies, and biomarker development for disease progression in ATTRv.<\/jats:p>","DOI":"10.1136\/jnnp-2021-327909","type":"journal-article","created":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T18:20:31Z","timestamp":1646677231000},"page":"668-678","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":111,"title":["Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis"],"prefix":"10.1136","volume":"93","clinical-trial-number":[{"clinical-trial-number":"nct03860935","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04882735","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct03702829","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1738-9580","authenticated-orcid":false,"given":"Antonia","family":"Carroll","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0212-8254","authenticated-orcid":false,"given":"P James","family":"Dyck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kennerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9054-026X","authenticated-orcid":false,"given":"Matthew C","family":"Kiernan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8323-873X","authenticated-orcid":false,"given":"Steve","family":"Vucic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,3,7]]},"reference":[{"key":"2023052906053238000_93.6.668.1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308724"},{"key":"2023052906053238000_93.6.668.2","doi-asserted-by":"publisher","DOI":"10.1080\/13506129.2020.1835263"},{"key":"2023052906053238000_93.6.668.3","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2020.5493"},{"key":"2023052906053238000_93.6.668.4","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(74)90291-5"},{"key":"2023052906053238000_93.6.668.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2007.04828.x"},{"key":"2023052906053238000_93.6.668.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2007.04.007"},{"key":"2023052906053238000_93.6.668.7","doi-asserted-by":"crossref","DOI":"10.3390\/genes12070955","article-title":"Ocular involvement in hereditary amyloidosis","volume":"12","author":"Minnella","year":"2021","journal-title":"Genes"},{"key":"2023052906053238000_93.6.668.8","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1055\/s-0039-1688994","article-title":"Neuropathy associated with systemic amyloidosis","volume":"39","author":"Kaku","year":"2019","journal-title":"Semin Neurol"},{"key":"2023052906053238000_93.6.668.9","doi-asserted-by":"publisher","DOI":"10.1159\/000490553"},{"key":"2023052906053238000_93.6.668.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.5.351"},{"key":"2023052906053238000_93.6.668.11","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1080\/13506129.2020.1841623","article-title":"New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden","volume":"28","author":"Gorram","year":"2021","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.12","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.1.45"},{"key":"2023052906053238000_93.6.668.13","first-page":"155","article-title":"Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan","volume":"20","author":"Hsieh","year":"2011","journal-title":"Acta Neurol Taiwan"},{"key":"2023052906053238000_93.6.668.14","doi-asserted-by":"publisher","DOI":"10.3109\/13506129.2014.997872"},{"key":"2023052906053238000_93.6.668.15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.e120"},{"key":"2023052906053238000_93.6.668.16","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/ane.13035","article-title":"Hereditary transthyretin-related amyloidosis","volume":"139","author":"Finsterer","year":"2019","journal-title":"Acta Neurol Scand"},{"key":"2023052906053238000_93.6.668.17","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000132966.36437.12"},{"key":"2023052906053238000_93.6.668.18","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/mus.27150","article-title":"Neuromuscular amyloidosis: unmasking the master of disguise","volume":"64","author":"Pinto","year":"2021","journal-title":"Muscle Nerve"},{"key":"2023052906053238000_93.6.668.19","doi-asserted-by":"crossref","first-page":"189","DOI":"10.3233\/JND-180371","article-title":"Clinical presentation, diagnosis and treatment of TTR amyloidosis","volume":"6","author":"Kapoor","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"2023052906053238000_93.6.668.20","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-6143.2007.01969.x"},{"key":"2023052906053238000_93.6.668.21","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301299"},{"key":"2023052906053238000_93.6.668.22","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0726-x","article-title":"Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm","volume":"13","author":"Sekijima","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2023052906053238000_93.6.668.23","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20644"},{"key":"2023052906053238000_93.6.668.24","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2015-310907"},{"key":"2023052906053238000_93.6.668.25","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/ene.13845","article-title":"Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas","volume":"26","author":"Th\u00e9audin","year":"2019","journal-title":"Eur J Neurol"},{"key":"2023052906053238000_93.6.668.26","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7124-7"},{"key":"2023052906053238000_93.6.668.27","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-315262"},{"key":"2023052906053238000_93.6.668.28","doi-asserted-by":"crossref","first-page":"58","DOI":"10.3109\/13506129.2012.682187","article-title":"Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological AIDS to diagnosis and some reflections on misdiagnosis","volume":"19 Suppl 1","author":"Salvi","year":"2012","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.29","doi-asserted-by":"crossref","first-page":"267","DOI":"10.3233\/JND-180348","article-title":"Spinal stenosis in familial transthyretin amyloidosis","volume":"6","author":"Carr","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"2023052906053238000_93.6.668.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2017.05.053"},{"key":"2023052906053238000_93.6.668.31","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2012-302353"},{"key":"2023052906053238000_93.6.668.32","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCIMAGING.112.000367"},{"key":"2023052906053238000_93.6.668.33","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.amjcard.2017.09.029","article-title":"Frequency of and prognostic significance of cardiac involvement at presentation in hereditary Transthyretin-Derived amyloidosis and the value of N-terminal pro-B-type natriuretic peptide","volume":"121","author":"Klaassen","year":"2018","journal-title":"Am J Cardiol"},{"key":"2023052906053238000_93.6.668.34","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1007\/s00415-014-7594-2","article-title":"Oculoleptomeningeal amyloidosis associated with transthyretin Leu12Pro in an African patient","volume":"262","author":"McColgan","year":"2015","journal-title":"J Neurol"},{"key":"2023052906053238000_93.6.668.35","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308107"},{"key":"2023052906053238000_93.6.668.36","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s00415-017-8668-8","article-title":"Age-Dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis","volume":"265","author":"Martins da Silva","year":"2018","journal-title":"J Neurol"},{"key":"2023052906053238000_93.6.668.37","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000018"},{"key":"2023052906053238000_93.6.668.38","doi-asserted-by":"crossref","unstructured":"Ferraro PM , D\u2019Ambrosio V , Di Paolantonio A , et al . Renal involvement in hereditary transthyretin amyloidosis: an Italian single-centre experience. Brain Sci 2021;11:980.doi:10.3390\/brainsci11080980","DOI":"10.3390\/brainsci11080980"},{"key":"2023052906053238000_93.6.668.39","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.08720811"},{"key":"2023052906053238000_93.6.668.40","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.ajo.2017.09.001","article-title":"Ocular manifestations of familial transthyretin amyloidosis","volume":"183","author":"Reynolds","year":"2017","journal-title":"Am J Ophthalmol"},{"key":"2023052906053238000_93.6.668.41","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s10286-019-00628-6","article-title":"Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis","volume":"29","author":"Obici","year":"2019","journal-title":"Clin Auton Res"},{"key":"2023052906053238000_93.6.668.42","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(19)33478-3"},{"key":"2023052906053238000_93.6.668.43","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.118.038169"},{"key":"2023052906053238000_93.6.668.44","doi-asserted-by":"publisher","DOI":"10.1097\/CND.0b013e3181d05994"},{"key":"2023052906053238000_93.6.668.45","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1212\/WNL.0000000000004178","article-title":"Sural nerve injury in familial amyloid polyneuropathy: Mr neurography vs clinicopathologic tools","volume":"89","author":"Kollmer","year":"2017","journal-title":"Neurology"},{"key":"2023052906053238000_93.6.668.46","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s00415-020-10127-8","article-title":"Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers","volume":"268","author":"Salvalaggio","year":"2021","journal-title":"J Neurol"},{"key":"2023052906053238000_93.6.668.47","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/mus.27100","article-title":"Novel imaging techniques using 18 F-florbetapir PET\/MRI can guide fascicular nerve biopsy in amyloid multiple mononeuropathy","volume":"63","author":"Shouman","year":"2021","journal-title":"Muscle Nerve"},{"key":"2023052906053238000_93.6.668.48","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ncl.2020.09.006","article-title":"Advances in the management of small fiber neuropathy","volume":"39","author":"Zeidman","year":"2021","journal-title":"Neurol Clin"},{"key":"2023052906053238000_93.6.668.49","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1001\/jamaophthalmol.2016.1889","article-title":"Potential role of in vivo confocal microscopy for imaging corneal nerves in transthyretin familial amyloid polyneuropathy","volume":"134","author":"Rousseau","year":"2016","journal-title":"JAMA Ophthalmol"},{"key":"2023052906053238000_93.6.668.50","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/cjp2.126","article-title":"The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis","volume":"5","author":"Rezk","year":"2019","journal-title":"J Pathol Clin Res"},{"key":"2023052906053238000_93.6.668.51","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.021612"},{"key":"2023052906053238000_93.6.668.52","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/jns.12350","article-title":"Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis","volume":"24","author":"Kapoor","year":"2019","journal-title":"J Peripher Nerv Syst"},{"key":"2023052906053238000_93.6.668.53","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1080\/13506129.2019.1708716","article-title":"Plasma neurofilament light chain: an early biomarker for hereditary ATTR amyloid polyneuropathy","volume":"27","author":"Maia","year":"2020","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.54","doi-asserted-by":"crossref","first-page":"e412","DOI":"10.1212\/WNL.0000000000011090","article-title":"Neurofilament light chain as a biomarker of hereditary Transthyretin-Mediated amyloidosis","volume":"96","author":"Ticau","year":"2021","journal-title":"Neurology"},{"key":"2023052906053238000_93.6.668.55","doi-asserted-by":"crossref","first-page":"2109","DOI":"10.1007\/s00415-019-09688-0","article-title":"Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy","volume":"268","author":"Adams","year":"2021","journal-title":"J Neurol"},{"key":"2023052906053238000_93.6.668.56","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.07.028"},{"key":"2023052906053238000_93.6.668.57","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-6143.2006.01585.x"},{"key":"2023052906053238000_93.6.668.58","doi-asserted-by":"publisher","DOI":"10.1021\/bi049621l"},{"key":"2023052906053238000_93.6.668.59","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1317488111"},{"key":"2023052906053238000_93.6.668.60","doi-asserted-by":"publisher","DOI":"10.1039\/c8cs00034d"},{"key":"2023052906053238000_93.6.668.61","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a033878","article-title":"The amyloid phenomenon and its significance in biology and medicine","volume":"12","author":"Dobson","year":"2020","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2023052906053238000_93.6.668.62","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.jns.2018.09.011","article-title":"The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: an ultrastructural study","volume":"394","author":"Koike","year":"2018","journal-title":"J Neurol Sci"},{"key":"2023052906053238000_93.6.668.63","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)93127-M"},{"key":"2023052906053238000_93.6.668.64","doi-asserted-by":"publisher","DOI":"10.1002\/lt.21395"},{"key":"2023052906053238000_93.6.668.65","doi-asserted-by":"crossref","first-page":"193","DOI":"10.3109\/13506129.2011.574354072","article-title":"Long-term data from the familial amyloidotic polyneuropathy world transplant registry (FAPWTR)","volume":"18 Suppl 1","author":"Wilczek","year":"2011","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.66","doi-asserted-by":"publisher","DOI":"10.1002\/lt.21817"},{"key":"2023052906053238000_93.6.668.67","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1097\/TP.0000000000001021","article-title":"Survival after transplantation in patients with mutations other than Val30Met: extracts from the FAP world transplant registry","volume":"100","author":"Suhr","year":"2016","journal-title":"Transplantation"},{"key":"2023052906053238000_93.6.668.68","doi-asserted-by":"publisher","DOI":"10.1097\/01.TP.0000111516.60013.E6"},{"key":"2023052906053238000_93.6.668.69","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21806"},{"key":"2023052906053238000_93.6.668.70","doi-asserted-by":"publisher","DOI":"10.1080\/13506120600960882"},{"key":"2023052906053238000_93.6.668.71","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.283815"},{"key":"2023052906053238000_93.6.668.72","doi-asserted-by":"crossref","unstructured":"Ibrahim M , Saint Croix GR , Lacy S , et al . The use of diflunisal for transthyretin cardiac amyloidosis: a review. Heart Fail Rev 2021;387.doi:10.1007\/s10741-021-10143-4","DOI":"10.1007\/s10741-021-10143-4"},{"key":"2023052906053238000_93.6.668.73","doi-asserted-by":"publisher","DOI":"10.1007\/s12265-013-9512-x"},{"key":"2023052906053238000_93.6.668.74","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7051-7"},{"key":"2023052906053238000_93.6.668.75","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.jns.2016.01.046","article-title":"Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTR-FAP) with Val30Met and non-Val30Met: a phase III, open-label study","volume":"362","author":"Ando","year":"2016","journal-title":"J Neurol Sci"},{"key":"2023052906053238000_93.6.668.76","doi-asserted-by":"publisher","DOI":"10.1080\/13506129.2016.1207163"},{"key":"2023052906053238000_93.6.668.77","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12225"},{"key":"2023052906053238000_93.6.668.78","doi-asserted-by":"crossref","first-page":"e1999","DOI":"10.1212\/WNL.0000000000006543","article-title":"Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy","volume":"91","author":"Coelho","year":"2018","journal-title":"Neurology"},{"key":"2023052906053238000_93.6.668.79","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-018-0947-7","article-title":"Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis in patients with transthyretin amyloid polyneuropathy","volume":"13","author":"Amass","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"2023052906053238000_93.6.668.80","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1805689"},{"key":"2023052906053238000_93.6.668.81","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/ejhf.2027","article-title":"Efficacy and safety of tafamidis doses in the Tafamidis in transthyretin cardiomyopathy clinical trial (ATTR-ACT) and long-term extension study","volume":"23","author":"Damy","year":"2021","journal-title":"Eur J Heart Fail"},{"key":"2023052906053238000_93.6.668.82","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/cpdd.700","article-title":"First-In-Human study of AG10, a novel, oral, specific, selective, and potent transthyretin stabilizer for the treatment of transthyretin amyloidosis: a phase 1 safety, tolerability, pharmacokinetic, and pharmacodynamic study in healthy adult volunteers","volume":"9","author":"Fox","year":"2020","journal-title":"Clin Pharmacol Drug Dev"},{"key":"2023052906053238000_93.6.668.83","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2019.03.012"},{"key":"2023052906053238000_93.6.668.84","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910723107"},{"key":"2023052906053238000_93.6.668.85","doi-asserted-by":"crossref","first-page":"6319","DOI":"10.2147\/DDDT.S96893","article-title":"Green tea extract as a treatment for patients with wild-type transthyretin amyloidosis: an observational study","volume":"9","author":"aus dem Siepen","year":"2015","journal-title":"Drug Des Devel Ther"},{"key":"2023052906053238000_93.6.668.86","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1212\/WNL.0000000000012965","article-title":"Cns involvement in hereditary transthyretin amyloidosis","volume":"97","author":"Sousa","year":"2021","journal-title":"Neurology"},{"key":"2023052906053238000_93.6.668.87","doi-asserted-by":"publisher","DOI":"10.1096\/fj.02-0764com"},{"key":"2023052906053238000_93.6.668.88","doi-asserted-by":"publisher","DOI":"10.1186\/1479-5876-8-74"},{"key":"2023052906053238000_93.6.668.89","doi-asserted-by":"crossref","first-page":"34","DOI":"10.3109\/13506129.2012.678508","article-title":"Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study","volume":"19 Suppl 1","author":"Obici","year":"2012","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.90","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1097\/FJC.0000000000001004","article-title":"A review of novel agents and clinical considerations in patients with ATTR cardiac amyloidosis","volume":"77","author":"Benbrahim","year":"2021","journal-title":"J Cardiovasc Pharmacol"},{"key":"2023052906053238000_93.6.668.91","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1504942"},{"key":"2023052906053238000_93.6.668.92","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1002\/cpdd.631","article-title":"Evaluation of the safety, tolerability, pharmacokinetics, and pharmacodynamics of a single intravenous dose of Miridesap in healthy Japanese subjects","volume":"8","author":"Ino","year":"2019","journal-title":"Clin Pharmacol Drug Dev"},{"key":"2023052906053238000_93.6.668.93","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20503"},{"key":"2023052906053238000_93.6.668.94","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3109\/13506129.2012.673140","article-title":"Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy","volume":"19 Suppl 1","author":"Ackermann","year":"2012","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.95","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1716793"},{"key":"2023052906053238000_93.6.668.96","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1007\/s00415-019-09671-9","article-title":"Inotersen preserves or improves quality of life in hereditary transthyretin amyloidosis","volume":"267","author":"Coelho","year":"2020","journal-title":"J Neurol"},{"key":"2023052906053238000_93.6.668.97","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1111\/ene.14285","article-title":"Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial","volume":"27","author":"Brannagan","year":"2020","journal-title":"Eur J Neurol"},{"key":"2023052906053238000_93.6.668.98","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/mus.27023","article-title":"Neuropathy symptom and change: Inotersen treatment of hereditary transthyretin amyloidosis","volume":"62","author":"Dyck","year":"2020","journal-title":"Muscle Nerve"},{"key":"2023052906053238000_93.6.668.99","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1002\/mus.27022","article-title":"mNIS+7 and lower limb function in inotersen treatment of hereditary transthyretin-mediated amyloidosis","volume":"62","author":"Dyck","year":"2020","journal-title":"Muscle Nerve"},{"key":"2023052906053238000_93.6.668.100","first-page":"219","article-title":"Safety and efficacy of a TTR specific antisense oligonucleotide in patients with transthyretin amyloid cardiomyopathy","volume":"24","author":"Benson","year":"2017","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.101","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/ehf2.13154","article-title":"Ligand conjugated antisense oligonucleotide for the treatment of transthyretin amyloidosis: preclinical and phase 1 data","volume":"8","author":"Viney","year":"2021","journal-title":"ESC Heart Fail"},{"key":"2023052906053238000_93.6.668.102","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1208760"},{"key":"2023052906053238000_93.6.668.103","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1716153"},{"key":"2023052906053238000_93.6.668.104","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S1474-4422(20)30368-9","article-title":"Long-Term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study","volume":"20","author":"Adams","year":"2021","journal-title":"Lancet Neurol"},{"key":"2023052906053238000_93.6.668.105","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1080\/13506129.2020.1730790","article-title":"Quality of life outcomes in Apollo, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis","volume":"27","author":"Obici","year":"2020","journal-title":"Amyloid"},{"key":"2023052906053238000_93.6.668.106","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/cpt.1974","article-title":"Single-Dose pharmacokinetics and pharmacodynamics of transthyretin targeting N-acetylgalactosamine-Small interfering ribonucleic acid conjugate, Vutrisiran, in healthy subjects","volume":"109","author":"Habtemariam","year":"2021","journal-title":"Clin Pharmacol Ther"},{"key":"2023052906053238000_93.6.668.107","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.02.014"},{"key":"2023052906053238000_93.6.668.108","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1038\/s41565-019-0591-y","article-title":"The Onpattro story and the clinical translation of nanomedicines containing nucleic acid-based drugs","volume":"14","author":"Akinc","year":"2019","journal-title":"Nat Nanotechnol"},{"key":"2023052906053238000_93.6.668.109","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2107454"},{"key":"2023052906053238000_93.6.668.110","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.36"},{"key":"2023052906053238000_93.6.668.111","doi-asserted-by":"publisher","DOI":"10.1007\/s10741-014-9462-7"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp-2021-327909","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T14:17:59Z","timestamp":1700317079000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp-2021-327909"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,7]]},"references-count":111,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,5,27]]},"published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1136\/jnnp-2021-327909"],"URL":"https:\/\/doi.org\/10.1136\/jnnp-2021-327909","relation":{},"ISSN":["0022-3050","1468-330X"],"issn-type":[{"value":"0022-3050","type":"print"},{"value":"1468-330X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,7]]}}}