An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54

Authors
Togashi, S Watanabe, H Nagasaka, T Shindo, K Shiozawa, Z Maeda, S Tawata, M Onaya, T
Citation
S. Togashi et al., An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54, NEUROLOGY, 53(3), 1999, pp. 637-639
Citations number
10
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
NEUROLOGY
ISSN journal
00283878 → ACNP
Volume
53
Issue
3
Year of publication
1999
Pages
637 - 639
Database
ISI
SICI code
0028-3878(19990811)53:3<637:AAFAPC>2.0.ZU;2-8
Abstract
Histologic examination of sural nerve of a 32-year-old man with an aggressi ve polyneuropathy associated with autonomic failure demonstrated amyloid de position, and familial amyloidotic polyneuropathy (FAP) was diagnosed. Immu nohistochemical staining showed transthyretin (TTR) staining of the amyloid deposits in nerve. Sequencing revealed G to A transition in the codon 54 c ausing TTR Lys 54. This is a new variant TTR associated with aggressive FAP .