Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene

Authors
Munar-Ques, M Dominguez, JML Viader-Farre, C Moreira, P Saraiva, MJM
Citation
M. Munar-ques et al., Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene, AMYLOID, 8(2), 2001, pp. 121-123
Citations number
9
Categorie Soggetti
Medical Research General Topics
Journal title
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
ISSN journal
13506129 → ACNP
Volume
8
Issue
2
Year of publication
2001
Pages
121 - 123
Database
ISI
SICI code
1350-6129(200106)8:2<121:TSSWFA>2.0.ZU;2-S
Abstract
Two Spanish sibs with familial amyloidotic polyneuropathy (FAP) homozygous for the V30M-TTR gene, were diagnosed by DNA and protein analyses. Their cl inical picture was very similar to the Majorcan FAP heterozygous patients e xcept for the sensorimotor syndrome which was more aggressive. Noteworthy w ere clinical differences between the sibs concerning autonomic involvement, cranial neuropathy and kidney disturbances. These differences can be due t o genetic and/or environmental factors.