Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54

Journal of the Neurological Sciences

Volumn 276, Issue 1-2, 2009, Pages 88-94

  Nagasaka, Takamura ^a   Togashi, Shinji ^a   Watanabe, Harue ^a   Iida, Haruyasu ^a   Nagasaka, Kaori ^a   Nakamura, Yuki ^a   Miwa, Michiaki ^a   Kobayashi, Fumikazu ^a   Shindo, Kazumasa ^a   Shiozawa, Zenji ^a  

^a UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

Autopsy; Familial amyloidotic polyneuropathy; Heart failure; Variant transthyretin

Indexed keywords

(3 IODOBENZYL)GUANIDINE I 123; AMYLOID; COLLAGEN FIBER; GUANINE NUCLEOTIDE BINDING PROTEIN; LYSINE 54; LYSINE DERIVATIVE; PREALBUMIN; SCATTER FACTOR RECEPTOR; SCATTER FACTOR RECEPTOR 30; SUCCIMER TC 99M; UNCLASSIFIED DRUG;

ADIPOSE TISSUE; ADRENAL GLAND; ADULT; ANOREXIA; ARTICLE; AUTONOMIC DYSFUNCTION; AUTOPSY; BIOPSY TECHNIQUE; BLADDER; BLOOD VESSEL; CASE REPORT; CELIAC PLEXUS; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; CODON; DISEASE COURSE; DISEASE SEVERITY; ELECTRON MICROSCOPY; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GALLBLADDER; GASTROINTESTINAL TRACT; GENE MUTATION; GENETIC ANALYSIS; HEART; HEART FAILURE; HISTOPATHOLOGY; HUMAN; HYPOPHYSIS; IMMUNOHISTOCHEMISTRY; KIDNEY; LIVER; LUNG; MALE; MOTOR DYSFUNCTION; MUSCLE; NERVE BIOPSY; PANCREAS; PELVIC NERVE; PERIPHERAL NERVE; PNEUMONIA; PRIORITY JOURNAL; PROSTATE; SENSORY DYSFUNCTION; SKIN; SPLEEN; SURAL NERVE; SYMPATHETIC NERVE; TESTIS; THYROID GLAND; TONGUE; VAGUS NERVE;

3-IODOBENZYLGUANIDINE; ADULT; AMYLOID NEUROPATHIES, FAMILIAL; AUTOPSY; DISEASE PROGRESSION; FEMALE; GLUCOSE TOLERANCE TEST; HUMANS; LYSINE; MALE; MUTATION; MYOCARDIAL PERFUSION IMAGING; PERIPHERAL NERVES; PREALBUMIN; SURAL NERVE;

EID: 58149171935     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.09.011     Document Type: Article

References (32)

1. Liz M.A., Faro C.J., Saraiva M.J., and Sousa M.M. Transthyretin, a new cryptic protease. J Biol Chem 279 (2004) 21431-21438
2. Sousa M.M., Berglund L., and Saraiva M.J. Transthyretin in high density lipoproteins: association with apolipoprotein A-I. J Lipid Res 41 (2000) 58-65
3. http://www.bumc.bu.edu/Dept/Content.aspx?DepartmentID=354&PageID=8850.
4. Busse A., Sánchez M.A., Monterroso V., Alvarado M.V., and León P. A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). Am J Med Genet 128 (2004) 190-194
5. Togashi S., Watanabe H., Nagasaka T., Shindo K., Shiozawa Z., Maeda S., et al. An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys54. Neurology 53 (1999) 637-639
6. Imasawa M., Toda Y., Sakurada Y., Imai M., and Iijima H. Vitreous opacities in a case of familial amyloidotic polyneuropathy associated with a transthyretin Lys 54. Acta Ophthalmol Scand 82 (2004) 635-636
7. Nakazato M., Shiomi K., Miyazato M., and Matsukura S. Type I familial amyloidotic polyneuropathy in Japan. Intern Med 31 (1992) 1335-1338
8. Araki S., and Yi S. Pathology of familial amyloidotic polyneuropathy with TTR Met 30 in kumamoto, Japan. Neuropathology 20 (2000) S47-51
9. Sobue G., Koike H., Misu K., Hattori N., Yamamoto M., Ikeda S., et al. Clinicopathological and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan. Amyloid 10 Suppl1 (2003) 32-38
10. Ikeda S., Nakazato M., Ando Y., and Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology 58 (2002) 1001-1007
11. Nakata T., Shimamoto K., Yonekura S., Kobayashi N., Sugiyama T., Imai K., et al. Cardiac sympathetic denervation in transthyretin-related familial amyloidotic polyneuropathy: detection with Iodine-123-MIBG. J Nucl Med 36 (1995) 1040-1042
12. Jacobson D.R., McFarlin D.E., Kane I., and Buxbaum J.N. Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet 89 (1992) 353-356
13. McCutchen S.L., Colon W., and Kelly L.W. Transthyretin mutation Leu55-Pro significantly alters tetramer stability and increases amyloidgenicity. Biochemistry 32 (1993) 12119-12127
14. Sebastiao M.P., Saraiva N.J., and Damas A.M. The crystal structure of amyloidgenic Leu55Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils. J Biol Chem 273 (1998) 24715-24722
15. Keetch C.A., Bromely E.H., McCammon M.G., Wang N., Christodoulou J., and Robinson C.V. L55P transthyretin accelerates subunit exchange and leads to rapid formation of hybrid tetramers. J Biol Chem 280 (2005) 41667-41674
16. Sekijima Y., Wiseman R.L., Matteson J., Hammarstro m P., Miller S.R., Sawkar A.R., et al. The biological and chemical basis for tissue-selective amyloid disease. Cell 121 (2006) 73-85
17. Kim H.S., Kim S.M., Kang S.W., Jung S.C., Lee K.S., Kim T.S., et al. An aggressive form of familial amyloidotic polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene. Eur J Neurol 12 (2005) 657-659
18. Jacobsson B., Lignelid H., and Bergerheim U.S.R. Transthyretin and cystatin C are catabolized in proximal tubular epithelial cells and the proteins are not useful as markers for renal carcinomas. Histopahology 26 (1995) 559-564
19. Tsuzuki K., Fukatsu R., Hayashi Y., Yoshida T., Sasaki N., Takamaru Y., et al. Amyloid β protein and transthyretin, sequestrating protein colocalize in normal human kidney. Neurosci Lett 222 (1996) 163-166
20. Sakashita N., Ando Y., Obayashi K., Terazaki H., Yamashita T., Takei M., et al. Familial amyloidotic polyneuropathy(ATTR Ser50Ile): the first autopsy case report. Virchows Arch 436 (2000) 345-350
21. Reilly M.M., Adams D., Booth D.R., Davis M.B., Said G., Laubriat-Bianchin M., et al. Transthyretin gene analysis in European patients with suspected familial amyloido polyneuropathy. Brain 118 (1995) 849-856
22. Koike H., Misu K., Sugiura M., Iijima M., Mori K., Yamamoto M., et al. Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 63 (2004) 129-138
23. Sakashita N., Ando Y., Jinnouchi K., Yoshimatsu M., Terazaki H., Obayashi K., et al. Familial amyloidotic polyneuropathy(ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage. Pathol Int 51 (2001) 476-480
24. Ikeda S., Yanagisawa N., Hongo M., and Ito N. Vagus nerve and celial ganglion lesions in generalized amyloidosis. J Neurol Sci 79 (1987) 129-139
25. Ando Y., Yi S., Nakagawa T., Ikegawa S., Hirota M., Miyazaki A., et al. Disturbed metabolism of glucose and related hormones in familial amyloidotic polyneuropathy : hypersensitivities of the autonomic nervous system and therapeutic prevention. J Auton Nerv Syst 35 (1991) 63-70
26. Olofsson B.-O., Grankvist K., Olsson T., Boman K., Forsberg K., Lafvas I., et al. Assesment of hypothalamic-pituitary function in patients with familial amyloidotic polyneuropathy. J Intern Med 229 (1991) 55-59
27. Olofsson B.-O., Grankvist K., Boman K., Forsberg K., Lafvas I., and Lithner F. Assesment of thyroid anad adrenal function in patients with familial amyloidotic polyneuropathy. J Intern Med 225 (1989) 337-341
28. Said G. Familial amyloid polyneuropathy: mechanisms leading to nerve degeneration. Amyloid. J Protein Folding Disord 10 Suppl 1 (2003) 7-12
29. Kelly J.W. The alternative conformations of amyloidgenic proteins and their multi-step assembly pathways. Curr Opin Struck Biol 8 (1998) 101-106
30. Teng M., Yin J., Vidal R., Ghiso J., Kumar A., Rabenou R., et al. Amyloid and nonfibrillar deposits in mice transgenic for wild-type human transthyretin: a possible model for senile systemic amyloidosis. Lab Invest 81 (2001) 385-396
31. Sousa M.M., Cardoso I., Fernandes R., Guimarães A., and Sariva M.J. Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of non-fibrillar aggregates. Am J Pathol 159 (2001) 1993-2000
32. Moe S.M., Singh G.K., and Bailey A.M. Beta2-microglobulin induces MMP-1 but not TIMP-1 expression in human synovial fibroblasts. Kidney Int 57 (2000) 2023-2034