Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster

References

• Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013; 8:31–38.
   PubMed Web of Science ®Google Scholar
• Benson MD. Pathogenesis of transthyretin amyloidosis. Amyloid. 2012;19(Suppl 1):14–15.
   PubMedGoogle Scholar
• Munar-Ques M, Saraiva MJ, Viader-Farré C, et al. Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain). Amyloid. 2005; 12(1):54–61.
   PubMed Web of Science ®Google Scholar
• Raya-Cruz M, Buades-Reines J, Gallego-Lezáun C, et al. Clinical and analytical variability in cases of familial amyloidotic polyneuropathy (PAF-TTR): comparison between healthy carriers and symptomatic patients. Medicina Balear. 2015;30(3):31–36.
   Google Scholar
• Ueda M, Ando Y. Recent advances in transthyretin amyloidosis therapy. Transl Neurodegener. 2014;3:19.
   PubMedGoogle Scholar
• 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(2):119–129.
   PubMed Web of Science ®Google Scholar
• Koike H, Hashimoto R, Tomita M, et al. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid. 2011;18(2):53–62.
   PubMed Web of Science ®Google Scholar
• Plante-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, Rocken 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
• Adams D, Lozeron P, Theaudin M, French Network for FAP (CORNAMYL), et al. Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid. 2012;19(Suppl 1):61–64.
   PubMed Web of Science ®Google Scholar
• Parman Y, Adams D, Obici L, et al. 60 years of TTR-FAP in Europe – where are we now? A European Network approach to defining the epidemiology and management patterns for transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29(Suppl 1):S3–S13.
   PubMed Web of Science ®Google Scholar
• Plante-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10(12):1086–1097.
   PubMed Web of Science ®Google Scholar
• Obici L, Kuks JB, Buades J, et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol. 2016;29(Suppl 1):S27–S35.
   PubMedGoogle Scholar
• Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75(3):408–427.
   PubMed Web of Science ®Google Scholar
• Sousa A, Andersson R, Drugge U, et al. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered. 1993;43(5):288–294.
   PubMed Web of Science ®Google Scholar
• Sousa A, Coelho T, Barros J, et al. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet. 1995;60(6):512–521.
   PubMed Web of Science ®Google Scholar
• Ikeda S, Nakazato M, Ando Y, et al. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology. 2002;58(7):1001–1007.
   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
• Buades-Reinés J, Raya-Cruz M, Gallego-Lezaún C, et al. Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease. J Peripher Nerv Syst. 2016;21(4):352–356.
   PubMed Web of Science ®Google Scholar
• Fraser FC. Trinucleotide repeats not the only cause of anticipation. Lancet. 1997;350(9076):459–460.
   PubMed Web of Science ®Google Scholar
• Drugge U, Andersson R, Chizari F, et al. Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet. 1993;30(5):388–392.
   PubMed Web of Science ®Google Scholar
• Tashima K, Ando Y, Tanaka Y, et al. Change in the age of onset in patients with familial amyloidotic polyneuropathy type I. Intern Med. 1995;34(8):748–750.
   PubMed Web of Science ®Google Scholar
• Soares ML, Coelho T, Sousa A, et al. Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. Hum Mol Genet. 2005;14(4):543–553.
   PubMed Web of Science ®Google Scholar
• Planté-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(11):e120.
   PubMed Web of Science ®Google Scholar
• Hellman U, Alarcon F, Lundgren HE, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid. 2008;15(3):181–186.
   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
• Santos D, Coelho T, Alves-Ferreira M, et al. Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)). Eur J Hum Genet. 2016;24(5):756–760.
   PubMed Web of Science ®Google Scholar
• Yamamoto K, Ikeda S, Hanyu N, et al. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. J Med Genet. 1998;35(1):23–30.
   PubMed Web of Science ®Google Scholar
• Bonaïti B, Olsson M, Hellman U, et al. TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? Eur J Hum Genet. 2010;18(8):948–952.
   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
• Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol. 1996;39(6):744–748.
   PubMed Web of Science ®Google Scholar
• Yamamura K. Amyloid deposition in transgenic mouse model for familial amyloidotic polyneuropathy. In: Hirai S, editor. Annual report of the primary amyloidosis research committee 1992. Tokyo: The Ministry of Health and Welfare of Japan; 1993. p. 153–155.
   Google Scholar
• Sequeiros J, Saraiva M. Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRmet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade). Am J Med Genet. 1987;27(2):345–357.
   PubMed Web of Science ®Google Scholar
• Alves-Ferreira M, Coelho T, Santos D, et al. A Trans-acting factor may modify age at onset in familial amyloid polyneuropathy ATTRV30M in Portugal. Mol Neurobiol. 2018;55(5):3676–3683.
   PubMed Web of Science ®Google Scholar
• Santos D, Coelho T, Alves-Ferreira M, et al. Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients. Ann Neurol. 2019;85(2):251–258.
   PubMed Web of Science ®Google Scholar
• Dardiotis E, Koutsou P, Zamba-Papanicolaou E, et al. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met. J Neurol Sci. 2009;284(1–2):158–162.
   PubMed Web of Science ®Google Scholar
• Dias A, Santos D, Coelho T, et al. C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients. Ann Clin Transl Neurol. 2019;6(4):748–754.
   PubMed Web of Science ®Google Scholar
• Misu K, Hattori N, Ando Y, et al. Anticipation in early- but not late-onset familial amyloid polyneuropathy (TTR Met 30) in Japan. Neurology. 2000;55(3):451–452.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Lundgren E, Westermark P. One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition. J Intern Med. 2017;281(4):337–347.
   PubMed Web of Science ®Google Scholar
• Ihse E, Ybo A, Suhr O, et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol. 2008;216(2):253–261.
   PubMed Web of Science ®Google Scholar