A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis

References

• Plante–Bordeneuve V. Transthyretin familial amyloid polyneuropathy: an update. J Neurol. 2018;265:976–983.
   PubMed Web of Science ®Google Scholar
• Buxbaum JN, Dispenzieri A, Eisenberg DS, et al. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the international society of amyloidosis (ISA) nomenclature committee. Amyloid. 2022;29:213–219.
   PubMed Web of Science ®Google Scholar
• Rowczenio D, Wechalekar A [Internet]. Mutations in hereditary amyloidosis; 2015. (cited 11 Oct 2021). Available from : http://amyloidosismutations.com/mut-attr.php.
   Google Scholar
• Carroll A, Dyck PJ, de Carvalho M, et al. Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. J Neurol Neurosurg Psychiatry. 2022;93:668–678.
   PubMedGoogle Scholar
• Inês M, Coelho T, Conceição I, et al. Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal: a nationwide study. Neuroepidemiology. 2018;51(3-4):177–182.
   PubMed Web of Science ®Google Scholar
• Olsson M, Jonasson J, Cederquist K, et al. Frequency of the transthyretin Val30Met mutation in the Northern Swedish population. Amyloid. 2014;21(1):18–20.
   PubMed Web of Science ®Google Scholar
• Parman Y, Adams D, Obici L, et al. Sixty years of transthyretin familial amyloid polyneuropathy (TTR–FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR–FAP. Curr Opin Neurol. 2016;29: S3–S13.
   PubMed Web of Science ®Google Scholar
• Adams D, Polydefkis M, González–Duarte A, et al. Long–term safety and efficacy of patisiran for hereditary transthyretin–mediated amyloidosis with polyneuropathy: 12–month results of an open-label extension study. Lancet Neurol. 2021;20(1):49–59.
   PubMed Web of Science ®Google Scholar
• Monteiro C, Mesgazardeh JS, Anselmo J, et al. Predictive model of response to tafamidis in hereditary ATTR polyneuropathy. JCI Insight. 2019;4:e126526.
   PubMed Web of Science ®Google Scholar
• Damy T, Garcia-Pavia P, Hanna M, et al. Efficacy and safety of tafamidis doses in the tafamidis in transthyretin cardiomyopathy clinical trial (ATTR-ACT) and long-term extension study. Eur J Heart Fail. 2021;23(2):277–285.
   PubMed Web of Science ®Google Scholar
• Plante–Bordeneuve V, Carayol J, Ferreira A, et al. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet. 2003;40:e120.
   PubMed Web of Science ®Google Scholar
• Bonaïti B, Alarcon F, Bonaïti-Pellie C, et al. Parent-of-origin effect in transthyretin related amyloid polyneuropathy. Amyloid. 2009;16(3):149–150.
   PubMed Web of Science ®Google Scholar
• Gorram F, Olsson M, Alarcon F, et al. New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden. Amyloid. 2021;28(2):84–90.
   PubMed Web of Science ®Google Scholar
• Gorram F, Alarcon F, Perdry H, et al. Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR–FAP) using a new non-parametric approach (NPSE). Amyloid. 2017;24(sup1):115–116.
   PubMed Web of Science ®Google Scholar
• Alarcon F, Planté–Bordeneuve V, Olsson M, et al. Non–parametric estimation of survival in age–dependent genetic disease and application to the transthyretin-related hereditary amyloidosis. PLoS One. 2018;25:1–14.
   Google Scholar
• Alarcon F, Planté-Bordeneuve V, Nuel G [Internet]. Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv. (cited 5 May 2022) Available from: ttps://arxiv.org/pdf/2107.09365.pdf.
   Google Scholar
• Samuelsson K, Jovanovic A, Egervall K, et al. Hereditary transthyretin amyloidosis in Sweden: comparisons between a non-endemic and an endemic region. Amyloid. 2022;19:1–8.
   Google Scholar
• Mariani LL, Lozeron P, Théaudin M, et al. Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France: severity of TTR–FAP in France. Ann Neurol. 2015;78(6):901–916.
   PubMed Web of Science ®Google Scholar
• Buades–Reinés J, Raya–Cruz M, Gallego– LC, et al. Transthyretin familial amyloid polyneuropathy (TTR–FAP) in mallorca: a comparison between late and early-onset disease. J Peripher Nerv Syst. 2016;21:352–356.
   PubMed Web of Science ®Google Scholar
• Caponetti AG, Rapezzi C, Gagliardi C, et al. Sex-related risk of cardiac involvement in hereditary transthyretin amyloidosis: insights from THAOS. JACC Heart Fail. 2021;9(10):736–746.
   PubMed Web of Science ®Google Scholar
• Lemos C, Coelho T, Alves–Ferreira M, et al. Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. J Neurol Neurosurg Psychiatry. 2014;85(3):326–330.
   PubMed Web of Science ®Google Scholar
• Santos D, Santos MJ, Alves–Ferreira M, et al. mtDNA copy number associated with age of onset in familial amyloid polyneuropathy. J Neurol Neurosurg Psychiatry. 2018;89(3):300–304.
   PubMed Web of Science ®Google Scholar
• Mazzeo A, Russo M, Di Bella G, et al. Transthyretin–related familial amyloid polyneuropathy (TTR–FAP): a single–center experience in sicily, an Italian endemic area. J Neuromuscul Dis. 2015;2(s2):S39–S48.
   PubMedGoogle Scholar
• Durmuş-Tekçe H, Matur Z, Mert Atmaca M, et al. Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey. Neuromuscul Disord. 2016;26(7):441–446.
   PubMed Web of Science ®Google Scholar
• Pavlova Z, Sarafov S, Todorov T, et al. Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria. Amyloid. 2021;28(4):219–225. .
   PubMedGoogle Scholar
• Luigetti M, Guglielmino V, Antonini G, et al. ATTRv in Lazio–Italy: a high–prevalence region in a non–endemic country. Genes. 2021;12:829.
   PubMed Web of Science ®Google Scholar
• Planté-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007;69(7):693–698.
   PubMed Web of Science ®Google Scholar
• Dohrn MF, Röcken C, De Bleecker JL, et al. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol. 2013;260(12):3093–3108.
   PubMed Web of Science ®Google Scholar
• Ando Y, Adams D, Benson MD, et al. Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis. Amyloid. 2022;29(3):143–155.
   PubMed Web of Science ®Google Scholar
• Ueda M, Sekijima Y, Koike H, et al. Monitoring of asymptomatic family members at risk of hereditary transthyretin amyloidosis for early intervention with disease–modifying therapies. J Neurol Sci. 2020;414:116813.
   PubMed Web of Science ®Google Scholar
• Dohrn MF, Auer–Grumbach M, Baron R, et al. Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature. J Neurol. 2021;268(10):3610–3625.
   PubMed Web of Science ®Google Scholar
• Chamova T, Gospodinova M, Asenov O, et al. Seven years of selective genetic screening program and Follow-Up of asymptomatic carriers with hereditary transthyretin amyloidosis in Bulgaria. Front Neurol. 2022;13:844595.
   PubMed Web of Science ®Google Scholar
• Gillmore JD, Reilly MM, Coats CJ, et al. Clinical and genetic evaluation of people with or at risk of hereditary ATTR amyloidosis: an expert opinion and consensus on best practice in Ireland and the UK. Adv Ther. 2022;39(6):2292–2301.
   PubMed Web of Science ®Google Scholar
• Conceição I, Damy T, Romero M, et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid. 2019;26(1):3–9.
   PubMed Web of Science ®Google Scholar
• Conceição I, González-Duarte A, Obici L, et al. Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5–9.
   PubMed Web of Science ®Google Scholar
• González-Moreno J, Losada-López I, Cisneros-Barroso E, et al. A descriptive analysis of ATTR amyloidosis in Spain from the transthyretin amyloidosis outcomes survey. Neurol Ther. 2021;10(2):833–845.
   PubMed Web of Science ®Google Scholar
• Russo M, Obici L, Bartolomei I, et al. ATTRv amyloidosis italian registry: clinical and epidemiological data. Amyloid. 2020;27(4):259–265.
   PubMed Web of Science ®Google Scholar
• Coelho T, Conceição I, Waddington-Cruz M, et al. A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the transthyretin amyloidosis outcomes survey (THAOS). Amyloid. 2022;22:1–9.
   Google Scholar
• Gillmore JD, Maurer MS, Falk RH, et al. Non biopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404–2412.
   PubMed Web of Science ®Google Scholar
• Lefaucheur JP, Ng Wing Tin S, Kerschen P, et al. Neurophysiological markers of small fibre neuropathy in TTR–FAP mutation carriers. J Neurol. 2013;260(6):1497–1503.
   PubMed Web of Science ®Google Scholar