Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden

References

• Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid: J Protein Fold Disord 2003;10:160–184.
   PubMed Web of Science ®Google Scholar
• Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 2007;36:411–423.
   PubMed Web of Science ®Google Scholar
• Hattori T, Takei Y, Koyama J, Nakazato M, Ikeda S. Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid: J Protein Fold Disord 2003;10:229–239.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Lindqvist P, Olofsson BO, Waldenstrom A, Backman C. Myocardial hypertrophy and function are related to age at onset in familial amyloidotic polyneuropathy. Amyloid: J Protein Fold Disord 2006;13:154–159.
   PubMed Web of Science ®Google Scholar
• Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand Suppl 1976;590:1–64.
   PubMedGoogle Scholar
• Holmgren G, Costa PM, Andersson C, Asplund K, Steen L, Beckman L, Nylander PO, Teixeira A, Saraiva MJ, Costa PP. Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J Med Genet 1994;31:351–354.
   PubMed Web of Science ®Google Scholar
• Holmgren G, Hellman U, Anan I, Lundgren HE, Jonasson J, Stafberg C, Fahoum S, Suhr OB. Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. Amyloid: J Protein Fold Disord 2005;12:184–188.
   PubMed Web of Science ®Google Scholar
• Janunger T, Anan I, Holmgren G, Lovheim O, Ohlsson PI, Suhr OB, Tashima K. Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. Amyloid: Int J Exp Clin Invest 2000;7:137–140.
   PubMed Web of Science ®Google Scholar
• Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD, Donat JR. Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology 2003;60:1625–1630.
   PubMed Web of Science ®Google Scholar
• Morner S, Hellman U, Suhr OB, Kazzam E, Waldenstrom A. Amyloid heart disease mimicking hypertrophic cardiomyopathy. J Intern Med 2005;258:225–230.
   PubMed Web of Science ®Google Scholar
• Utsugisawa K, Tohgi H, Nagane Y, Yamagata M, Saito K, Mihara M. Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family. Muscle Nerve 1998;21:1783–1785.
   PubMedGoogle Scholar
• Nakazato M, Ikeda S, Shiomi K, Matsukura S, Yoshida K, Shimizu H, Atsumi T, Kangawa K, Matsuo H. Identification of a novel transthyretin variant (Val30—-Leu) associated with familial amyloidotic polyneuropathy. FEBS Lett 1992;306:206–208.
   PubMed Web of Science ®Google Scholar
• Yazaki M, Varga J, Dyck PJ, Benson MD. A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis. Amyloid: J Protein Fold Disord 2002;9:268–271.
   PubMed Web of Science ®Google Scholar
• Zeldenrust SR, Skinner M, Skare J, Benson MD. A new transthretin variant (His 69) associated with vitreous amyloid a FAP family. Amyloid: Int J Exp Clin Invest 1994;1:17–22.
   Web of Science ®Google Scholar
• Ando Y, Terazaki H, Nakamura M, Ando E, Haraoka K, Yamashita T, Ueda M, Okabe H, Sasaki Y, Tanihara H, Uchino M, Inomata Y. A different amyloid formation mechanism: de novo oculoleptomeningeal amyloid deposits after liver transplantation. Transplantation 2004;77:345–349.
   PubMed Web of Science ®Google Scholar
• Yamashita T, Ando Y, Ueda M, Nakamura M, Okamoto S, Zeledon ME, Hirahara T, Hirai T, Ueda A, Misumi Y, Obayashi K, Inomata H, Uchino M. Effect of liver transplantation on transthyretin Tyr114Cys-related cerebral amyloid angiopathy. Neurology 2008;70:123–128.
   PubMed Web of Science ®Google Scholar
• Ando Y, Ando E, Tanaka Y, Yamashita T, Tashima K, Suga M, Uchino M, Negi A, Ando M. De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation [letter]. Transplantation 1996;62:1037–1038.
   PubMed Web of Science ®Google Scholar