Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities

Amyloid

Volumn 9, Issue 4, 2002, Pages 263-267

  Yazaki, Masahide ^a   Connors, Lawreen H ^b   Eagle Jr , Ralph C ^c   Leff, Steven R ^d   Skinner, Martha ^b   Benson, Merrill D ^a,e  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c WILLS EYE HOSPITAL   (United States)

^d ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^e Richard L Roudeboush V A M C   (United States)

Author keywords

Amyloidosis; New transthyretin variant; Vitreous amyloid

Indexed keywords

AMYLOID; ANTISERUM; CONGO RED; GUANINE; LEUCINE; PREALBUMIN; THIAMINE; TRYPTOPHAN;

ADULT; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN VARIANT; STAINING; VITRECTOMY; VITREOUS BODY; VITREOUS OPACITY;

EID: 12244298210     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506120209114104     Document Type: Article

References (11)

1. Benson MD (2000). Amyloidosis. In Scriver CR, Beaudet AL, Sly WS, Valle D, (eds.) The Metabolic and Molecular Bases of Inherited Disease, pp. 5345-5378 (New York: McGraw Hill)
2. Benson MD and Uemichi T (1996). Transthyretin amyloidosis. Amyloid. Int J Exp Clin Invest 3, 44-56
3. Nichols WC and Benson MD (1990). Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 37, 44-53
4. Rukavina JG, Block WD, Jackson CE, Falls HF, Carey JH and Curtis AC (1956). Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form. Medicine 35, 239-334
5. Falls HF, Jackson JH, Carey JG, Rukavina JG and Block WD (1955). Ocular manifestations of hereditary primary systemic amyloidosis. Arch Ophtalmol 54, 660-664
6. Zolyomi Z, Benson MD, Halasz K, Uemichi T and Fekete G (1998). Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. Amyloid. Int J Exp Clin Invest 5, 30-34
7. Sandgren O, Holmgren G, Lundgren E, and Steen L (1988). Restriction fragment length polymorphism analysis of mutated transthyretin in vitreous amyloidosis. Arch Ophthalmol 106, 790-792
8. Zeldenrust SR, Skinner M, Harding J, Skare J and Benson MD (1994). A new transthyretin variant (His 69) associated with vitreous amyloid in an FAP family. Amyloid Int J Exp Clin Invest 1, 17-22
9. Ando Y, Ando E, Tanaka Y, Yamashita T, Tashima K, Suga M, Uchino M, Negi A and Ando M (1996). De novo amyloid synthesis in ocular tissue in familial amyloidostic polyneuropathy after liver transplantation. Transplantation 62, 10037-10038
10. Munar-Qués M, Salvá.-Ladaria L, Mulet-Perera P, Solé M, Lopez-Andreu FR and Saraiva MJM (2000). Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. Amyloid. Int J Exp Clin Invest 7, 266-269
11. Araki S, Yi S, Murakami T, Watanabe S, Ikegawa S, Takahashi K and Yamamura K (1994). Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met 30) gene. Pathological and immunohistochemical similarity to human familial amyloidotic polyneuropathy, type I. Mol Neurobiol 8, 15-23