A trinucleotide deletion in the transthyretin gene (ΔV122) in a kindred with familial amyloidotic polyneuropathy

Neurology

Volumn 48, Issue 6, 1997, Pages 1667-1670

  Uemichi, Tomoyuki ^a   Liepnieks, Juris J ^a,b   Benson, Merrill D ^a,b,c  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Richard L Roudeboush Vet Aff M   (United States)

^c RICHARD L ROUDEBUSH VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; DNA; PREALBUMIN; TRINUCLEOTIDE; VALINE;

ADULT; AGED; AMYLOID NEUROPATHY; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ECUADOR; FAMILIAL DISEASE; FEMALE; GENE DELETION; HETEROZYGOTE DETECTION; HUMAN; ISOELECTRIC FOCUSING; MALE; NEPHELOMETRY; PRIORITY JOURNAL; RECTUM BIOPSY; SUBARACHNOID HEMORRHAGE;

EID: 0030760818     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.6.1667     Document Type: Article

References (18)

1. Husby G. Nomenclature and classification of amyloid and amyloidoses. J Intern Med 1992;232:511-512.
2. Benson MD, Uemichi T. Transthyretin amyloidosis. Amyloid. Int J Exp Clin Invest 1996;3:44-56.
3. Madisen L, Hoar DI, Holroyd CD, Crisp M, Hodes ME. DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet 1987;27:379-390.
4. Nichols WC, Liepnieks JJ, McKusick VA, Benson MD. Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. Genomics 1989;5:535-540.
5. Connors LH, Gertz MA, Skinner M, Cohen AS. Nephelometric measurement of human serum prealbumin and correlation with acute-phase proteins CPR and SAA: results in familial amyloid polyneuropathy. J Lab Clin Med 1984;104:538-545.
6. Wallace RW, Dwulet FE, Conneally PM, Benson MD. Biochemical and molecular genetic characterization of a new variant prealbumin associated hereditary amyloidosis. J Clin Invest 1986;78:6-12.
7. Tsuzuki T, Mita S, Maeda S, Araki S, Shimada K. Structure of the human prealbumin gene. J Biol Chem 1985;260:12224-12227.
8. Ii K, Kyle RA, Dyck PJ. Immunohistochemical characterization of amyloid proteins in sural nerves and clinical associations in amyloid neuropathy. Am J Pathol 1992;141:217-226.
9. Goren H, Steinberg MC, Farboody GH. Familial oculoleptomeningeal amyloidosis. Brain 1980;103:473-495.
10. Petersen RB, Tresser NJ, Richardson SL, Gali M, Goren H, Gambetti P. A family with oculoleptomeningeal amyloidosis and dementia has a mutation in the transthyretin gene. J Neuropathol Exp Neurol 1995;54:413.
11. Vidal R, Garzuly F, Budka H, et al. Meningocerebrovascular amyloidosis associated with a novel transthyretin (TTR) missense mutation at codon 18 (TTRD18G). Am J Pathol 1996; 148:361-366.
12. Benson MD. Leptomeningeal amyloid and variant transthyretins. Am J Pathol 1996;148:351-354.
13. Yoshioka K, Furuya H, Sasaki H, Saraiva MJ, Costa PP, Sakaki Y. Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of the Val→Met mutation most common to the disease. Hum Genet 1989;82:9-13.
14. Streisinger G, Okada Y, Emrich J, et al. Frameshift mutations and the genetic code. Cold Spring Harb Symp Quant Biol 1966:31:77-84.
15. Canning S, Dryja TP. Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci USA 1989;86:5044-5048.
16. Dwulet FE, Benson MD. Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish descent. Proc Natl Acad Sci USA 1984; 81:694-698.
17. Dwulet FE, Benson MD. Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). J Clin Invest 1986;78: 880-886.
18. Blake CCF, Geisow MJ, Oatley SJ. Structure of prealbumin: Secondary, tertiary and quaternary' interactions determined by Fourier refinement at 1.8 A. J Mol Biol 1978;121:339-356.