Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus

Journal of the Neurological Sciences

Volumn 270, Issue 1-2, 2008, Pages 133-140

  Kato Motozaki, Yuko ^a   Ono, Kenjiro ^a   Shima, Keisuke ^a   Morinaga, Akiyoshi ^a   Machiya, Tomohiko ^a,d   Nozaki, Ichiro ^a   Shibata Hamaguchi, Ayumi ^a   Furukawa, Yutaka ^a   Yanase, Daisuke ^a,d   Ishida, Chiho ^a,b   Sakajiri, Kenichi ^c   Yamada, Masahito ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b National Hospital Organization Iou National Hospital   (Japan)

^c ISHIKAWA PREFECTURAL CENTRAL HOSPITAL   (Japan)

^d Noto General Hospital   (Japan)

Author keywords

Early onset; Endemic focus; Familial amyloidosis; Late onset; Transthyretin; Val30Met mutation

Indexed keywords

PREALBUMIN;

ADULT; AGED; ARTICLE; AUTONOMIC DYSFUNCTION; CLINICAL FEATURE; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MUTATION; PREVALENCE; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; AMYLOID NEUROPATHIES, FAMILIAL; AMYLOIDOSIS; EPIDEMIOLOGY, MOLECULAR; FEMALE; HUMANS; JAPAN; MALE; METHIONINE; MIDDLE AGED; MUTATION; PREALBUMIN; REGISTRIES; RETROSPECTIVE STUDIES; VALINE;

EID: 44649124149     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.02.019     Document Type: Article

References (40)

1. Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75 (1952) 408-427
2. Saraiva M.J., Costa P.P., Birken S., and Goodman D.S. Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Trans Assoc Am Physicians 96 (1983) 261-270
3. Sousa A., Coelho T., Barros J., and Sequeiros J. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 60 (1995) 512-521
4. Araki S., Mawatari S., Ohta M., Nakajima A., and Kuroiwa Y. Polyneuritic amyloidosis in a Japanese family. Arch Neurol 18 (1968) 593-602
5. Tawara S., Nakazato M., Kangawa K., Matsuo H., and Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 116 (1983) 880-888
6. Nakazato M., Sasaki H., Furuya H., et al. Biochemical and genetic characterization of type I familial amyloidotic polyneuropathy. Ann Neurol 21 (1987) 596-598
7. 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
8. Ando Y., Nakamura M., and Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 62 (2005) 1057-1062
9. Andersson R. Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Med Scand 590 (1976) 1-64 (Suppl)
10. Holmgren G., Holmberg E., Lindstrom A., et al. Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis. Clin Genet 33 (1988) 176-180
11. Kito S., Itoga E., Kamiya K., Kishida T., and Yamamura Y. Studies on familial amyloid polyneuropathy in Ogawa Village, Japan. Eur Neurol 19 (1980) 141-151
12. Andersson R. Hereditary amyloidosis with polyneuropathy. Acta Med Scand 1-2 (1970) 85-94
13. Ikeda S., Hanyu N., Hongo M., et al. Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110 (1987) 315-337
14. Misu K., Hattori N., Nagamatsu M., et al. 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 (1999) 1951-1962
15. Koike H., Misu K., Ikeda S., et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 59 (2002) 1771-1776
16. Sobue G., Koike H., Misu K., et al. Clinicopathologic and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan. Amyloid 10 Suppl 1 (2003) 32-38
17. The numbers of patients registered as Intractable Diseases in Japan. (in Japanese) Published 2007. Available at: http://www.nanbyou.or.jp/what/nan_kouhu1_win.htm Accessed at August 21, 2007.
18. Demographic shifts. (in Japanese) Published 2007. Available at: http://www.stat.go.jp/data/jinsui/index.htm Accessed at August 21, 2007.
19. Yoshinaga T., Nakazato M., Ikeda S., and Ohnishi A. Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy. Neurology 42 (1992) 2045-2047
20. Yoshinaga T., Takei Y., Katayanagi K., and Ikeda S. Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene. Amyloid 11 (2004) 56-60
21. 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 58 (2001) 1914-1918
22. Saeki Y., Ueno S., Yorifuji S., Sugiyama Y., Ide Y., and 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 180 (1991) 380-385
23. Motozaki Y., Sugiyama Y., Ishida C., Komai K., Matsubara S., and Yamada M. Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study. J Neurol Sci 260 (2007) 236-239
24. Araki S., Ikegawa S., Okamoto N., Murakami T., Ando Y., and Yi S. Epidemiological study of familial amyloidotic polyneuropathy (FAP) in Kumamoto focus, Japan. 3rd International Symposium on Familial Amyloidotic Polyneuropathy and other TTR Related Disorders. 2nd International Workshop on Liver Transplantation in FAP. Lisbon, Portugal, October 27-29, 1995. Neuromuscul Disord vol. 6 (Suppl 1) (1996) S3-S94
25. Koike H., Misu K., Sugiura M., et al. Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 63 (2004) 129-138
26. Munar-Ques M., Saraiva M.J., Viader-Farre C., Zabay-Becerril J.M., and Mulet-Ferrer J. Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain). Amyloid 12 (2005) 54-61
27. Sousa A., Andersson R., Drugge U., Holmgren G., and Sandgren O. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered 43 (1993) 288-294
28. Soares M.L., 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 14 (2005) 543-553
29. Xing Y., Nakamura A., Chiba T., et al. Transmission of mouse senile amyloidosis. Lab Invest 81 (2001) 493-499
30. Lundmark K., Westermark G.T., Nystrom S., Murphy C.L., Solomon A., and Westermark P. Transmissibility of systemic amyloidosis by a prion-like mechanism. Proc Natl Acad Sci U S A 99 (2002) 6979-6984
31. Fu X., Korenaga T., Fu L., et al. Induction of AApoAII amyloidosis by various heterogeneous amyloid fibrils. FEBS Lett 563 (2004) 179-184
32. Ikeda S. Is familial amyloid polyneuropathy rare? DNA testing is changing the concept of this disease. Neurology 69 (2007) 627-628
33. Plante-Bordeneuve V., Ferreira A., Lalu T., et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 69 (2007) 693-698
34. Ohmori H., Ando Y., Makita Y., et al. Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy. J Med Genet 41 (2004) e51
35. Almeida M.R., Aoyama-Oishi N., Sakaki Y., et al. Haplotype analysis of common transthyretin mutations. Hum Genet 96 (1995) 350-354
36. Drugge U., Andersson R., Chizari F., et al. Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet 30 (1993) 388-392
37. Tashima K., Ando Y., Tanaka Y., Uchino M., and Ando M. Change in the age of onset in patients with familial amyloidotic polyneuropathy type I. Intern Med 34 (1995) 748-750
38. Yamamoto K., Ikeda S., Hanyu N., Takeda S., and Yanagisawa N. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy. J Med Genet 35 (1998) 23-30
39. Sousa A., Coelho T., Lobato L., and Sequeiros J. Parental transmission and anticipation of age-onset in FAP-I. Am J Hum Genet 49 (1991) A2757 (Suppl)
40. Soares M., Buxbaum J., Sirugo G., et al. Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions. Hum Genet 104 (1999) 480-485