Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family

Muscle and Nerve

Volumn 21, Issue 12, 1998, Pages 1783-1785

  Utsugisawa, Kimiaki ^a   Tohgi, Hideo ^a   Nagane, Yuriko ^a   Yamagata, Munehisa ^a   Saito, Koh ^a   Mihara, Masatoshi ^a  

^a IWATE MEDICAL UNIVERSITY   (Japan)

Author keywords

DNA diagnosis; Familial amyloid polyneuropathy; Point mutation; Variant transthyretin

Indexed keywords

AMYLOID; CYTOSINE; GUANINE; LEUCINE; PREALBUMIN; VALINE;

ADULT; AMINO ACID SUBSTITUTION; AMYLOID NEUROPATHY; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; JAPAN; MALE; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; AMYLOID NEUROPATHIES; BASE SEQUENCE; FEMALE; HUMANS; JAPAN; MIDDLE AGED; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREALBUMIN;

EID: 0031760376     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199812)21:12<1783::AID-MUS24>3.0.CO;2-O     Document Type: Article

References (11)

1. Andrade C: A peculiar form of peripheral neuropathy. Brain 1952;75:408-427.
2. Dwulet FE, Benson MD: Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. Proc Natl Acad Sci USA 1984;81:694-698.
3. Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M: Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet 1992;41:70-73.
4. Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita S, Kumamoto T, Araki S, Ando M: A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun 1992;187:397-403.
5. Murakami T, Uchino M, Ando M: Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy. Pathol Int 1955;45:1-9.
6. 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.
7. Saraiva MJM, Birken S, Costa PP, Goodman DWS: Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. J Clin Invest 1984;74:104-119.
8. Saraiva MJM, Costa PP, Almeida MR, Banzhoff A, Altland K, Ferlini A, Rubboli G, Plasmati R, Tassinari CA, Romeo G, Salvi F: Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. Hum Genet 1988;80:341-343.
9. Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S: Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun 1983;116:880-888.
10. Ueno S, Uemichi T, Takahasi N, Soga F, Yorifuji S, Tarui S: Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun 1990;169:1117-1121.
11. Ueno S, Uemichi T, Yorifuji S, Tarui S: A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. Biochem Biophys Res Commun 1990;169:143-147.