Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His

Neurology

Volumn 60, Issue 10, 2003, Pages 1625-1630

  Blevins, G ^a   Macaulay, R ^b   Harder, S ^c   Fladeland, D ^c   Yamashita, T ^d   Yazaki, M ^d   Hamidi Asl, K ^d   Benson, M D ^d,e   Donat, J R ^c  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b DALHOUSIE UNIVERSITY   (Canada)

^c ROYAL UNIVERSITY HOSPITAL   (Canada)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

HISTIDINE; PREALBUMIN; TYROSINE;

ADULT; AGED; AMYLOIDOSIS; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTRAST ENHANCEMENT; CONTROLLED STUDY; DEMENTIA; EXON; FAMILY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HUMAN CELL; LIVER TRANSPLANTATION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; OCULAR AMYLOIDOSIS; OCULOLEPTOMENINGEAL AMYLOIDOSIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PROTEIN VARIANT; RADICULOPATHY; SEIZURE; SPINAL CORD DISEASE; STROKE; SUBARACHNOID HEMORRHAGE; TRANSTHYRETIN AMYLOIDOSIS; TRANSTHYRETIN GENE; VITREOUS AMYLOIDOSIS;

EID: 0037799503     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000065901.18353.AB     Document Type: Article

References (22)

1. Benson MD. Amyloidosis. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular basis of inherited disease, vol 4, 8th ed. New York: McGraw Hill, 2000;5345-5378.
2. Uitti RJ, Donat JR, Rozdilsky B, et al. Familial oculoleptomeningeal amyloidosis. Report of a new family with unusual features. Arch Neurol 1988;45:1118-1122.
3. Uemichi T, Uitti RJ, Koeppen AH, et al. Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Arch Neurol 1999;56:1152-1155.
4. Goren H, Steinberg MC, Farboody GH. Familial oculoleptomeningeal amyloidosis. Brain 1980;103:473-495.
5. Petersen RB, Goren H, Cohen M, et al. Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol 1997;41:307-313.
6. Garzuly F, Wisniewski T, Brittig F, Budka H. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly). Neurology 1996;47:1562-1567.
7. Mascalchi M, Salvi F, Pirini MG, et al. Transthyretin amyloidosis and superficial siderosis of the CNS. Neurology 1999;53:1498-1502.
8. Herrick MK, DeBruyne K, Horoupian DS, et al. Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. Neurology 1996;47:988-992.
9. Brett M, Persey MR, Reilly MM, et al. Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain 1999;122:183-190.
10. Ellie E, Camou F, Vital A, et al. Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). Neurology 2001;57:135-137.
11. Ueno S, Fujimura H, Yorifuji S, et al. Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. Brain 1992;115:1275-1289.
12. Madisen L, Hoar DI, Holroyd CD, et al. DNA banking: the effect of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet 1987;27:379-390.
13. Nichols WC, Benson MD. Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequence. Clin Genet 1990;37:44-53.
14. Zeldenrust SR, Skinner M, Skare J, et al. A new transthyretin variant (His 69) associated with vitreous amyloid in an FAP family. Amyloid 1994;1:17-22.
15. Munar-Qués M, Pedrosa JL, Coelho T, et al. Two pairs of proven monozygotic twins discordant for familial amyloid polyneuropathy (FAP) TTR Met 30. J Med Genet 1999;36:629-632.
16. Suhr OB, Herlenius G, Friman S, et al. Liver transplantation for hereditary transthyretin amyloidosis. Liver Transpl 2000;6:263-276.
17. Ericzon BG, Holmgren G, Lundgren E, et al. New structural information and update on liver transplantation in transthyretin-associated amyloidosis. Report from the 4th International Symposium on Familial Amyloidotic Polyneuropathy and Other Transthyretin Related Disorders and the 3rd International Workshop on Liver Transplantation in Familial Amyloid Polyneuropathy, Umea, Sweden, June 1999. Amyloid 2000;7:145-147.
18. Adams D, Samuel D, Goulon-Goeau C, et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 2000;123:1495-1504.
19. Dickson PW, Schreiber G. High levels of messenger RNA for transthyretin (prealbumin) in human choroid plexus. Neurosci Lett 1986;66:311-315.
20. Martone RL, Herbert J, Dwork A, et al. Transthyretin is synthesized in the mammalian eye. Biochem Biophys Res Commun 1988;151:905-912.
21. Munar-Qués M, Salvá-Ladaria L, Mulet-Perera P, et al. Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. Amyloid 2000;7:266-269.
22. Ando Y, Tanaka Y, Nakazato M, et al. Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation. Biochem Biophys Res Commun 1995;211:354-358.