Page 27 - Read Online

Page 10 of 11 Verriello et al. Vessel Plus 2021;5:51 https://dx.doi.org/10.20517/2574-1209.2021.69

REFERENCES
1. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet 2016;387:2641-54. DOI PubMed
2. Benson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2020: update and recommendations by the International
Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2020;27:217-22. DOI PubMed
3. Kaku M, Berk JL. Neuropathy associated with systemic amyloidosis. Semin Neurol 2019;39:578-88. DOI PubMed
4. Koike H, Misu K, Sugiura M, et al. Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology
2004;63:129-38. DOI PubMed
5. Koike H, Mouri N, Fukami Y, et al. Two distinct mechanisms of neuropathy in immunoglobulin light chain (AL) amyloidosis. J
Neurol Sci 2021;421:117305. DOI PubMed
6. Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003;349:583-96. DOI PubMed
7. Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D. Hereditary transthyretin amyloidosis overview. Neurol Sci
2020. DOI PubMed
8. Koike H, Misu K, Ikeda S, et al; Study Group for Hereditary Neuropathy in Japan. Type I (transthyretin Met30) familial amyloid
polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002;59:1771-6. DOI PubMed
9. Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with
polyneuropathy. J Neurol 2021;268:2109-22. DOI PubMed PMC
10. Gonzalez-Duarte A. Autonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis). Clin Auton Res
2019;29:245-51. DOI PubMed
11. Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev
Neurol 2019;15:387-404. DOI PubMed
12. Karam C, Dimitrova D, Christ M, Heitner SB. Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR
amyloidosis. Neurol Clin Pract 2019;9:309-13. DOI PubMed PMC
13. 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:S39-48. DOI PubMed PMC
14. Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y. New mutant gene (transthyretin Arg 58) in cases with hereditary
polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. Biochem Biophys Res Commun
1991;180:380-5. DOI PubMed
15. Zólyomi Z, Benson MD, Halász K, Uemichi T, Fekete G. Transthyretin mutation (serine 84) associated with familial amyloid
polyneuropathy in a Hungarian family. Amyloid 1998;5:30-4. DOI PubMed
16. Murakami T, Tachibana S, Endo Y, et al. Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.
Neurology 1994;44:315-8. DOI PubMed
17. Koike H, Hashimoto R, Tomita M, et al. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical
analysis. Amyloid 2011;18:53-62. DOI PubMed
18. 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;88:457-8. DOI PubMed PMC
19. Lozeron P, Mariani LL, Dodet P, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy.
Neurology 2018;91:e143-52. DOI PubMed
20. Théaudin M, Lozeron P, Algalarrondo V, et al; French FAP Network (CORNAMYL) Study Group. Upper limb onset of hereditary
transthyretin amyloidosis is common in non-endemic areas. Eur J Neurol 2019;26:497-e36. DOI PubMed
21. Adams D, Lozeron P, Theaudin M, et al; French Network for FAP. Regional difference and similarity of familial amyloidosis with
polyneuropathy in France. Amyloid 2012;19 Suppl 1:61-4. DOI PubMed
22. Cappellari M, Cavallaro T, Ferrarini M, et al. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen
patients. J Peripher Nerv Syst 2011;16:119-29. DOI PubMed
23. Goyal NA, Mozaffar T. Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: an ALS mimicker. Neurol
Genet 2015;1:e18. DOI PubMed PMC
24. Planté-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-
FAP). Neurology 2007;69:693-8. DOI PubMed
25. Mathis S, Magy L, Diallo L, Boukhris S, Vallat JM. Amyloid neuropathy mimicking chronic inflammatory demyelinating
polyneuropathy. Muscle Nerve 2012;45:26-31. DOI PubMed
26. Dohrn MF, Röcken C, De Bleecker JL, et al. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-
neuropathy. J Neurol 2013;260:3093-108. DOI PubMed
27. Mariani LL, Lozeron P, Théaudin M, et al; French Familial Amyloid Polyneuropathies Network (CORNAMYL) Study Group.
Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol 2015;78:901-16.
DOI PubMed PMC
28. Ando Y, Ueyama H, Watanabe S, et al. Early involvement of motor nerve dysfunction in atypical cases with familial amyloidotic
polyneuropathy (FAP) type I. Muscle Nerve 1993;16:978-9. PubMed
29. Yoshioka A, Yamaya Y, Saiki S, et al. A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene
with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings. Arch Neurol 2001;58:1914-8. DOI
PubMed
30. Salvi F, Scaglione C, Michelucci R, et al. Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. Amyloid