|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy.
|
18925459 |
2008 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide.
|
22094129 |
2011 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status.
|
30091268 |
2018 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment.
|
27884058 |
2016 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP.
|
9843084 |
1998 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.
|
26286643 |
2016 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy.
|
15536615 |
2005 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP.
|
28479268 |
2017 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met.
|
28327574 |
2017 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed.
|
27794111 |
2016 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD).
|
28813711 |
2017 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
As found in a study in Cyprus, we confirmed the role of complement <i>C1Q</i> genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met.
|
31019999 |
2019 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP) type I is caused by a mutated transthyretin (TTR V30M) and characterized by a sensorimotor and autonomic neuropathy.
|
15496172 |
2004 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
|
15804246 |
2005 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition, we have characterized the Thr-119-Met TTR variant, which is a common nonpathogenic variant in the Portuguese population, to further investigate the role that this mutation plays in protecting individuals who also carry the Val-30-Met mutation against the classically severe FAP pathology.
|
7577941 |
1995 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation.
|
18506713 |
2008 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families.
|
30615214 |
2019 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met).
|
29581083 |
2018 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs.
|
14986482 |
2003 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Previous series have predominantly described patients with the TTR variant Val30Met (V30M), which is the most prevalent cause of FAP worldwide.
|
21992998 |
2012 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
We determined that SELDI-TOF MS was suitable for quantitative detection of ATTR V30M and demonstrated that the proportion of ATTR V30M to WT TTR was 46.6% in amyloid-laden cardiac tissue from an FAP patient who died 10 years after liver transplantation.
|
19372189 |
2009 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation.
|
25060417 |
2014 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.
|
15523922 |
2004 |
|
Adenomatous Polyposis Coli
|
|
0.100 |
GeneticVariation
|
BEFREE |
Using a series of aspirated abdominal fat tissues from 6 FAP patients with transthyretin (TTR) Val30Met variant, the severity of amyloid deposits was examined and the composition ratio of wild type-to-variant TTR in fat amyloid was assayed by liquid chromatography-ion trap mass spectrometry (LC-MS/MS).
|
18383093 |
2008 |