Transthyretin Val30Ala mutation in a Chinese family with familial amyloid polyneuropathy: Clinical, pathological and genetic investigation

Chinese Journal of Neurology

Volumn 40, Issue 3, 2007, Pages 173-176

  Xu, Min ^a   Jia, Jian Ping ^a   Li, Cun Jiang ^a   Wang, Xiang Bo ^a   Jia, Long Fei ^a   Lü, Hai Yan ^a   Liu, Lu ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

Amyloid neuropathies, familial; Biopsy; Mutation; Prealbumin

Indexed keywords

EID: 84860867248     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Saraiva MJ. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat, 2001, 17: 493-503.
2. Nanri K, Utsumi H, Yamada M, et al. Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. J Neurol Sci, 2002, 198: 93-96.
3. 2001, 34: 19-22.
4. 2003, 35: 408-411.
5. Nichols WC, Benson MD. Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet, 1990, 37: 44-53.
6. Victor M, Ropper AH. Disease of the peripheral nerves//Victor M, Ropper AH, eds. Adams and Victor's principles of neurology. 7th ed. New York: McGraw-Hill, 2001: 1423-1425.
7. Sousa MM, Saraiva MJ. Neurodegeneration in familial amyloid polyneuropathy: from pathology to molecular signaling. Prog Neurobiol, 2003, 71: 385-400.
8. Ando Y, Yamashita T, Tanaka Y, et al. Role of nitric oxide in the peripheral vessels of patients with familial amyloidotic polyneuropathy (FAP) type I. J Auton Nerv Syst, 1994, 50: 79-85.
9. Jones LA, Skare JC, Cohen AS, et al. Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet, 1992, 41: 70-73.
10. Monteiro E, Freire A, Barroso D. Familial amyloid polyneuropathy and liver transplantation. J Hepatol, 2004, 41: 188-194.
11. Ray SS, Lansbury PT Jr. A possible therapeutic target for Lou Gehrig's disease. Proc Nat Acad Sci U S A, 2004, 101: 5701-5702.
12. Reixach N, Deechongkit S, Jiang X, et al. Tissue damage in the amyloidoses: transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture. Proc Natl Acad Sci USA, 2004, 101: 2817-2822.