Late onset type I familial amyloidotic polyneuropathy: Presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type

Pathology International

Volumn 47, Issue 6, 1997, Pages 353-359

  Takahashi, Kiyoshi ^a   Sakashita, Naomi ^a   Ando, Yukio ^a   Suga, Moritaka ^a   Ando, Masayuki ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

Author keywords

Familial amyloidotic polyneuropathy; Late onset; Transthyretin

Indexed keywords

AMYLOID; AMYLOID PRECURSOR PROTEIN; PREALBUMIN; SERUM AMYLOID P;

ADULT; AGED; AMYLOID NEUROPATHY; ARTICLE; AUTOPSY; CASE REPORT; CONTROLLED STUDY; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; HEART VENTRICLE HYPERTROPHY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; ONSET AGE; PRIORITY JOURNAL;

EID: 0030942753     PISSN: 13205463     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-1827.1997.tb04508.x     Document Type: Article

References (24)

1. Andrade C. A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952; 75: 408-427.
2. Hofer PA, Anderson R. Postmortem findings in primary familial amyloidosis with polyneuropathy. Acta Pathol. Microbiol. Scand. A 1952; 83: 309-322.
3. Rukavina JG, Block WD, Jackson CE, Falls HF, Carey JH, Curtis AC. Primary systemic amyloidosis: A review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine 1956; 35: 239-609.
4. van Allen MW, Frohlich JA, Davies JR. Inherited predisposition to generalized amyloidosis: Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer. Neurology 1969; 19: 10-25.
5. Meretoja J. Familial systemic para-amyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. Ann. Clin. Res. 1969; 1: 314-324.
6. Meretoja J, Teppo L. Histopathological findings of familial amyloidosis with cranial neuropathy as principal manifestations. Acta Pathol. Microbiol. Scand. A 1971; 79: 432-440.
7. Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa T. Polyneuritic amyloidosis in Japanese family. Arch. Neurol. 1963; 18: 593-602.
8. Gafni J, Fischel B, Reif R et al. Amyloidotic polyneuropathy in a Jewish family: Evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies. QJM 1952; 55: 33-43.
9. Araki S. Familial amyloidotic polyneuropathies. In: Marrink J, Rijwijk MH, eds. Amyloidosis. Nijhoff Publishers, Dordrecht, 1986; 195-218.
10. Glenner GG, Murphy MA. Amyloidosis of the nervous system. J. Neurol. Sci. 1989; 94: 1-28.
11. Ikeda S, Hanyu N, Ongo M et al. Hereditary generalized amyloidosis with polyneuropathy: Clinicopathological study of 65 Japanese patients. Brain 1976; 110: 315-337.
12. Tawara S, Nakazato M, Kangawa K. Identification of amyloid pre-albumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem. Biophys. Res. Commun. 1983; 116: 880-888.
13. Benson MD. Familial amyloidotic polyneuropathy. Trends Neurosci. 1983; 12: 88-92.
14. Murakami T, Uchino M, Ando M. Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy. Pathol. Int. 1995; 45: 1-9.
15. Takahashi K, Kimura Y, Yi S, Araki S. Pathology of familial amyloidotic polyneuropathy. In: Isobe T, Araki S, Uchino F et al., eds. Amyloid and Amyloidosis. Plenum Press, New York, 1988; 505-510.
16. Takahashi K, Kimura Y, Yi S, Araki S. Cardiac pathology of familial amyloidotic polyneuropathy type I (FAP I): a study of 16 autopsy cases in Kumamoto. In: Costa PP, de Freitas AF, Saraiva MJM, eds. Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders. Arquivoa de Medicina Porto, Porto, 1990, 395-400.
17. Takahashi K, Yi S, Kimura T, Araki S. Familial amyloidotic polyneuropathy type 1 in Kumamoto, Japan: A clinicopathologic, histochemical, immunohistochemical, and ultrastructural study. Hum. Pathol. 1991; 22: 519-527.
18. Wright JR, Calkins E, Humphrey R. Potassium permanganate reaction in amyloidosis: A histologic method to assist in differentiating forms of this disease. Lab. Invest. 1977; 38: 274-281.
19. Ikegawa S, Tanase S, Araki S, Morino Y. Quantitative detection of a variant pre-albumin associated with type 1 familial amyloidotic polyneuropathy (Japanese type) by high performance liquid chromatography. Clin. Chim. Acta 1988; 167: 165-172.
20. Holmgren G, Lundgren E, Kanagawa K et al. Diagnostic radio-immunoassay and DNA analysis in Swedish and Japanese patients with familial amyloidotic polyneuropathy. Homozygosity for the TTR Met30 gene. Acta Neurol. Scand. 1993; 87: 124-127.
21. Holmgren G, Bergstrom S, Drugge U et al. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin. Genet. 1992; 41: 39-41.
22. Ikeda S, Nakano T, Yaginuma N, Nakazato M, Tsukagoshi T. Asymptomatic homozygous gene carrier in a family with type 1 familial amyloid polyneuropathy. Eur. Neurol. 1992; 32: 308-313.
23. Yoshinaga T, Nakazato M, Ikeda S et al. Homozygosity for the transthyretin Met30 gene in three Japanese siblings with type 1 familial amyloidotic polyneuropathy. Neurology 1992; 42: 2045-2047.
24. Yokoi K, Pahla JA, Miyakawa K et al. Animal model of homozygous familial polyneuropathy: Analysis of factors affecting amyloid deposition. Am. J. Pathol. 1997; 150: 1497-1508.