|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Evidence from clinical studies, including an 18-month placebo-controlled trial and subsequent long-term, open-label extension studies (providing data from ≤ 6 years of treatment), indicate that tafamidis slowed deterioration of neurological function and maintained health-related quality of life in patients with early-stage ATTR-PN and the Val30Met mutation.
|
31098895 |
2019 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry.
|
31163298 |
2019 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Using S ST QSTing, a highly quantitated, standardized, referenced, and automated QSTing approach of the body's surface distribution of sensation loss we have shown that: 1) reliable and useful measurement of the body surface distribution of sensation loss is possible; 2) this measure is abnormal in most patients with hATTR-PN and is an indication of polyneuropathy severity; and 3) cutaneous sensation loss involves both large and small sensory fibers in this disease but slightly more small fibers in early onset Val30Met patients.
|
30219500 |
2018 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
The L55P mutation linked to aggressive early onset cardiomyopathy and polyneuropathy induces substantial structural perturbations in both the DAGH and CBEF β-sheets, whereas the V30M polyneuropathy-linked substitution perturbs primarily the CBEF sheet.
|
29972637 |
2018 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation.
|
26763274 |
2016 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three of the patients with the Val30Met mutation were treated with tafamidis for longer than one year and cessation of the polyneuropathy resulted.
|
26115788 |
2015 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Transthyretin V30M mutation is the most common variant leading to Familial Amyloidotic Polyneuropathy.
|
25519307 |
2014 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Predominant symptom presentation in patients with hereditary TTR amyloidosis differed according to the underlying disease-causing mutation (polyneuropathy for Val30Met, cardiomyopathy for Val122Ile and Leu111Met, and mixed for Glu89Gln).
|
23193944 |
2013 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Effect of albumin on transthyretin and amyloidogenic transthyretin Val30Met disposition and tissue deposition in familial amyloidotic polyneuropathy.
|
24211615 |
2013 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Spatial visual contrast sensitivity in liver transplanted Portuguese familial amyloidotic polyneuropathy (ATTR V30M) patients.
|
22856676 |
2012 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Continuous development of arrhythmia is observed in Swedish transplant patients with familial amyloidotic polyneuropathy (amyloidogenic transthyretin Val30Met variant).
|
21280184 |
2011 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although early LT in Val30Met is indicated in order to halt the typical symptoms of polyneuropathy, additional complications occurring predominantly with other mutations may prevail and lead to life-threatening complications or a fatal outcome.
|
20209591 |
2010 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Modeling familial amyloidotic polyneuropathy (Transthyretin V30M) in Drosophila melanogaster.
|
19372706 |
2009 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
|
19493541 |
2009 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
A rapid and sensitive prenatal diagnosis of familial amyloidotic polyneuropathy ATTR Val30Met by mass spectrometry.
|
19609897 |
2009 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Differences in the gastrointestinal manifestations have emerged between Swedish and Japanese familial amyloidotic polyneuropathy amyloidogenic transthyretin Valine30Methionine (FAP ATTR Val30Met) patients.
|
18760272 |
2008 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
At 47 years of age a Japanese woman with a transthyretin Val30Met mutation and sensorimotor polyneuropathy underwent liver transplantation; no postoperative deterioration related to the graft or polyneuropathy occurred.
|
16792551 |
2006 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Liver transplantation does not prevent the development of life-threatening arrhythmia in familial amyloidotic polyneuropathy, Portuguese-type (ATTR Val30Met) patients.
|
15257048 |
2004 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition, through the use of HHP we are able to detect differences in stability between fibrils formed from WT TTR and the familial amyloidotic polyneuropathy-associated variant V30M.
|
12900507 |
2003 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhage.
|
11422811 |
2001 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene.
|
11409034 |
2001 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of the present study was to analyze the forms of wild type and mutated monomeric transthyretin (Val30Met) in the amyloid fibrils of patients with familial amyloidotic polyneuropathy by electrospray ionization mass spectrometry (ESI-MS).
|
10439118 |
1999 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloidotic polyneuropathy type 1 in Brazil is associated with the transthyretin Val30Met variant.
|
10611951 |
1999 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conclude that the clinical expressions of familial amyloidotic polyneuropathy ATTR Val30Met are different in Swedish and Japanese patients.
|
10439119 |
1999 |
|
Polyneuropathy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Amyloid fibrils derived from the Japanese, Portuguese, and Swedish types of familial amyloidotic polyneuropathy all consist of a variant transthyretin (TTR) with a substitution of methionine for valine at position 30 (TTR Met 30).
|
9095004 |
1997 |