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Amyloid
The Journal of Protein Folding Disorders
Volume 31, 2024 - Issue 1
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Research Articles

Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study

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Pages 62-69 | Received 15 Jun 2023, Accepted 05 Oct 2023, Published online: 19 Oct 2023

References

  • Adams D, Koike H, Slama M, et al. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387–404. doi: 10.1038/s41582-019-0210-4.
  • Koike H, Tanaka F, Hashimoto R, et al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry. 2012;83(2):152–158. doi: 10.1136/jnnp-2011-301299.
  • Adams D, Gonzalez-Duarte A, O’Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):11–21. doi: 10.1056/nejmoa1716153.
  • Benson MD, Waddington-Cruz M, Berk JL, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):22–31. doi: 10.1056/nejmoa1716793.
  • Coelho T, Maia LF, Da Silva AM, et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol. 2013;260(11):2802–2814. doi: 10.1007/s00415-013-7051-7.
  • Schmidt HH, Waddington-Cruz M, Botteman MF, et al. Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle Nerve. 2018;57(5):829–837. doi: 10.1002/mus.26034.
  • Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021;268(6):2109–2122. doi: 10.1007/s00415-019-09688-0.
  • Visser NA, Notermans NC, Linssen RSN, et al. Incidence of polyneuropathy in Utrecht, The Netherlands. Neurology. 2015;84(3):259–264. doi: 10.1212/WNL.0000000000001160.
  • Thimm A, Bolz S, Fleischer M, et al. Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas. Neurol Res Pract. 2019;1(1):30. doi: 10.1186/s42466-019-0035-z.
  • Skrahina V, Grittner U, Beetz C, et al. Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology. Ann Med. 2021;53(1):1787–1796. doi: 10.1080/07853890.2021.1988696.
  • Vogt B, Chahin N, Wiszniewski W, et al. Screening for genetic mutations in patients with neuropathy without definite etiology is useful. J Neurol. 2020;267(9):2648–2654. doi: 10.1007/s00415-020-09899-w.
  • Namiranian D, Chalk C, Massie R. Poor yield of routine transthyretin screening in patients with idiopathic neuropathy. Can J Neurol Sci. 2020;47(6):816–819. doi: 10.1017/cjn.2020.114.
  • England JD, Gronseth GS, Franklin G, et al. Distal symmetrical polyneuropathy: definition for clinical research. Muscle Nerve. 2005;31(1):113–123. doi: 10.1002/mus.20233.
  • Antoine JC, Azulay JP, Bouche P, et al. Chronic inflammatory demyelinating polyradiculoneuropathy: diagnostic strategy. Guidelines of the french CIDP study group. Rev Neurol. 2005;161(10):988–996. doi: 10.1016/s0035-3787(05)85166-5.
  • Lozeron P, Lacroix C, Theaudin M, et al. An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation. Amyloid. 2013;20(3):188–192. doi: 10.3109/13506129.2013.818535.
  • Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. J Am Med Assoc. 2013;310(24):2658–2667. doi: 10.1001/jama.2013.283815.
  • Lahuerta Pueyo C, Aibar Arregui MÁ, Gracia Gutierrez A, et al. Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data. Eur J Hum Genet. 2019;27(5):783–791. doi: 10.1038/s41431-019-0337-1.
  • Dispenzieri A, Coelho T, Conceição I, et al. Clinical and genetic profile of patients enrolled in the transthyretin amyloidosis outcomes survey (THAOS): 14-year update. Orphanet J Rare Dis. 2022;17(1):236. doi: 10.1186/s13023-022-02359-w.
  • Cortese A, Vegezzi E, Lozza A, et al. Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy. J Neurol Neurosurg Psychiatry. 2017;88(5):457–458. doi: 10.1136/jnnp-2016-315262.
  • Mariani LL, Lozeron P, Théaudin M, Mincheva Z, Signate A, Ducot B, et al. Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol. 2015;78(6):901–16.
  • Senderek J, Lassuthova P, Kabzińska D, et al. The genetic landscape of axonal neuropathies in the middle-aged and elderly: focus on MME. Neurology. 2020;95(24):e3163–79–e3179. doi: 10.1212/WNL.0000000000011132.
  • Currò R, Salvalaggio A, Tozza S, et al. RFC1 expansions are a common cause of idiopathic sensory neuropathy. Brain. 2021;144(5):1542–1550. doi: 10.1093/brain/awab072.

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