Transthyretin Amyloid Polyneuropathy (TTR-FAC)


Transthyretin Amyloid Polyneuropathy
(TTR-FAC)
Key Literature References

Adams D, Samuel D, Goulon-Goeau C, Nakazato M, Costa PM, Feray C, Plante V, Ducot B, Ichai P, Lacroix C, Metral S, Bismuth H,
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Brett M, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, Morgan-Hughes JA. Transthyretin Leu12Pro
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Coelho T, Chorao R, Sousa A, Alves IL, Torres MF, Saraiva MJ. Compound heterozygote of transthyretin Met30 and transthyretin Met119 are protected from the devastating effects of familial amyloidotic polyneuropathy. Neuromusc Disord. 1996; 6: 20.

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Hornsten R, Wiklund U, Olofsson BO, Jensen SM, Suhr OB. Liver transplantation does not prevent the development of life-threatening arrhythmia in familial amyloidotic polyneuropathy, Portuguese-type (ATTR Val30Met) patients. Transplantation. 2004; 78: 112–6.

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Ikeda S, Hanyu N, Hongo M, Yoshioka J, Oguchi H, Yanagisawa N, Kobayashi T, Tsukagoshi H, Ito N, Yokota T. Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110 (Pt. 1987; 2): 315–37.

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Ikeda S, Takei Y, Yanagisawa N, Matsunami H, Hashikura Y, Ikegami T, Kawasaki S. Peripheral nerves regenerated in familial amyloid polyneuropathy after liver transplantation. Ann Intern Med. 1997; 127: 618–20.

Juneblad K, Naslund A, Olofsson BO, Suhr OB. Outcome of exercise electrocardiography in familial amyloidotic polyneuropathy patients, Portuguese type, under evaluation for liver transplantation. Amyloid. 2004; 11: 208–13.

Kato-Motozaki Y, Ono K, Shima K, Morinaga A, Machiya T, Nozaki I, Shibata-Hamaguchi A, Furukawa Y, Yanase D, Ishida C, Sakajiri K, Yamada M. Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus. J Neurol Sci. 2008 Jul 15;270 (1-2):133-40

Kawaji T, Ando Y, Ando E, Nakamura M, Hirata A, Tanihara H. A case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy. Amyloid. 2004; 11: 257–9.

Liu YT, Lee YC, Yang CC, Chen ML, Lin KP. Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression. J Neurol Sci. 2008 Apr 15;267 (1-2):91-9.

Lobato L, Beirao I, Silva M, Fonseca I, Queiros J, Rocha G, Sarmento AM, Sousa A, Sequeiros J. End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. Amyloid. 2004; 11: 27–37.

Mascalchi M, Salvi F, Pirini MG, D'Errico A, Ferlini A, Lolli F, Plasmati R, Tessa C, Villari N, Tassinari CA. Transthyretin amyloidosis and superficial siderosis of the CNS. Neurology. 1999; 53: 1498–503.

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Misu K, Hattori N, Ando Y, Ikeda S, Sobue G. Anticipation in early - but not late-onset familial amyloid polyneuropathy (TTR Met30) in Japan. Neurology. 2000; 55: 451–2.

Misu K, Hattori N, Nagamatsu M, Ikeda Si, Ando Y, Nakazato M, Takei Yi, Hanyu N, Usui Y, Tanaka F, Harada T, Inukai A, Hashizume Y, Sobue G. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30- associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 122 (Pt. 1999; 10): 1951–62.

Motozaki Y, Sugiyama Y, Ishida C, Komai K, Matsubara S, Yamada M. Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.
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Munar-Ques M, Lopes Dominguez JM, Viader-Farre C, Moreira P, Saraiva MJ. Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene. Amyloid. 2001; 8: 121–3.

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Nagasaka T., Togashi S., Watanabe H., Iida H., Nagasaka K., Nakamura Y., Miwa M., Kobayashi F., Shindo K., Shiozawa Z. Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54.  Journal of the Neurological Sciences. 2009. Volume 276, Issue 1: 88-94

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