Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene

Neurology

Volumn 47, Issue 4, 1996, Pages 988-992

  Herrick, M K ^a   DeBruyne, K ^a   Horoupian, D S ^b   Skare, J ^d   Vanefsky, M A ^c   Ong, T ^a  

^a SANTA CLARA VALLEY MEDICAL CENTER   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF MASSACHUSETTS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; PREALBUMIN; VALINE;

AGED; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA DETERMINATION; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; LEPTOMENINX; NEUROLOGICAL COMPLICATION; PARESIS; PERIPHERAL NEUROPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0029808011     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.4.988     Document Type: Article

References (25)

1. Benson MD, Wallace MR. Amyloidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989:2439-2460.
2. Selkoe DJ. Alzheimer's disease: a central role for amyloid. J Neuropathol Exp Neurol 1994;53:438-447.
3. Prusiner SB, Hsiao KK. Human prion diseases. Ann Neurol 1994;35:385-395.
4. Vinters HV, Pardridge WM, Yang J. Immunohistochemical study of cerebral amyloid angiopathy: use of antiserum to a synthetic 28-amino-acid peptide fragment of the Alzheimer's disease amyloid precursor. Hum Pathol 1988;19:214-222.
5. Saraiva MJM, Costa PP, Goodman DS. Transthyretin and familial amyloidotic polyneuropathy. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RI, Kunkel LM, eds. The molecular and genetic basis of neurological disease. Boston: Butterworth-Heinemann, 1993:889-894.
6. Izumoto S, Younger D, Hays AP, Martone RL, Smith RT, Herbert J. Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. Neurology 1992;42:2094-2102.
7. Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, Yanagihara T. Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. Brain 1992;115:1275-1289.
8. Silva Horta J da. Pathologische Anatomie der portugiesischen Paramyloidosenfälle mit besonderer Bevorzugung des peripheren Nervensystems; Acta Neuroveg 1955;12:105-134.
9. Silva Horta J da, Filipe I, Duarte S. Portuguese polyneuritic familial type of amyloidosis. Path Microbiol 1964;27:809-825.
10. Julião OF, Queiroz LS, Lopes de Faria J. Portuguese type of familial amyloid polyneuropathy: anatomo-clinical study of a Brazilian family. Europ Neurol 1974;11:180-195.
11. Benson MD, Cohen AS. Generalized amyloid in a family of Swedish origin: a study of 426 family members in seven generations of a new kinship with neuropathy, nephropathy, and central nervous system involvement. Ann Intern Med 1977; 86:419-424.
12. Takahashi K, Yi S, Kimura Y, Araki S. Familial amyloidotic polyneuropathy type 1 in Kumamoto, Japan: a clinicopathological, histochemical, immunohistochemical, and ultrastructural study. Hum Pathol 1991;22:519-527.
13. Ushiyama M, Ikeda S, Yanagisawa N. Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. Acta Neuropathol 1991;81:524-528.
14. Kametani F, Ikeda S, Yanagisawa N, Ishi I, Hanyu N. Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. J Neurol Sci 1992;108:178-183.
15. Hofer P-Å, Andersson R. Postmortem findings in primary familial amyloidosis with polyneuropathy: a study based on six cases from northern Sweden. Acta Path Microbiol Scand Sect A 1975;83:309-322.
16. Delisle MB, Bouissou H, Geraud G. Place de la neuropathie amyloïde familiale de type I dans l'amylose: etude anatomoclinique d'un cas français. Ann Pathol 1983;3:293-299.
17. Hamburg A. Unusual cause of vitreous opacities: primary familial amyloidosis. Ophthalmologica 1971;162:173-177.
18. Ogata J, Okayama M, Goto I, Inomata H, Yoshida I, Omae T. Primary familial amyloidosis with vitreous opacities: report of an autopsy case. Acta Neuropathol 1978;42:67-70.
19. Okayama M, Goto I, Ogata J, Omae T, Yoshida I, Inomata H. Primary amyloidosis with familial vitreous opacities: an unusual case and family. Arch Intern Med 1978;138:105-111.
20. Goren H, Steinberg MC, Farboody GH. Familial oculoleptomeningeal amyloidosis. Brain 1980;103:473-495.
21. Uitti RJ, Donat JR, Rozdilsky B, Schneider RJ, Koeppen AH. Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features. Arch Neurol 1988;45:1118-1122.
22. 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.
23. McKusick VA with the assistance of Francomano CA, Antonarakis BA, Pearson PL. Mendelian inheritance in man. A catalog of human genes and genetic disorders, vol 1. Baltimore and London: The Johns Hopkins University Press, 1994: 1215-1217.
24. Yoshioka K, Furuya H, Sasaki H, Saraiva MJM, Costa PP, Sakaki Y. Haplotype analysis of familial amyloidotic polyneuropathy: evidence for multiple origins of Val→Met mutation most common to the disease. Hum Genet 1989;82:9-13.
25. Lewis WD, Skinner M, Simms RW, Jones LA, Cohen AS, Jenkins RL. Orthotopic liver transplantation for familial amyloidotic polyneuropathy. Clin Transplantation 1994;8:107-110.