|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
These observations indicate the same methionine for valine substitution at position 30 of the transthyretin molecule in patients with vitreous amyloidosis as seen in Swedish patients with FAP as well as in patients with FAP from Japan and Portugal, and patients of Swedish descent with FAP from the United States.
|
2897192 |
1988 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The peptide elution pattern seen for the individuals with confirmed amyloidosis is consistent for the presence of a prealbumin variant with a methionine for valine at position 30 of the molecule.
|
3820203 |
1986 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
|
8599155 |
1996 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.
|
8857732 |
1996 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The first liver transplantation for hereditary TTR amyloidosis was performed in Sweden in 1990 on a patient with ATTR Val30Met amyloidosis, and the result was encouraging.
|
10827225 |
2000 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloidotic polyneuropathy (FAP) type I, the most common dominantly inherited form of amyloidosis, is caused by a Val-to-Met point mutation at position 30 (Val(30)-->Met) in the protein transthyretin.
|
10973857 |
2000 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because leptomeningeal amyloidosis occurs in FAP ATTR Val30 Met as the progression of the disease, this information suggests that in addition to peripheral neuropathy, disorders of the central nervous system (CNS) should be given an attention in patients who underwent sequential liver transplantation using an explanted FAP ATTR Val30 Met patient's liver.
|
11477356 |
2001 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In addition to the findings characteristic of homozygosity for ATTR Val30Met such as vitreous amyloidosis and relatively less autonomic involvements, this case had the unique findings of motor-dominant sensorimotor polyneuropathy and unusual sural nerve biopsy specimen results.
|
11709003 |
2001 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Families with a variant transthyretin (TTR V30M)-associated familial amyloidotic polyneuropathy (FAP) exhibit genetic anticipation, with TTR V30M-amyloid depositing at an earlier age in successive generations.
|
15478467 |
2004 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We describe a case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy (FAP) associated with Val30Met transthyretin mutation.
|
15678760 |
2004 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
|
15804246 |
2005 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis.
|
18729067 |
2008 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Positive side effects, like improvement on orthostatic hypotension symptoms and well-being sensation, contributing to confirm erythropoietin as a drug of choice to treat anaemia in amyloidosis TTR V30M.
|
18925459 |
2008 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The demonstration, in hereditary systemic transthyretin Val30Met amyloidosis, that such differences are consistently associated with amyloid fibrils composed of different length transthyretin fragments sheds new light on this question and will open the way to further informative studies.
|
19061244 |
2009 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms.
|
20132088 |
2010 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M.
|
21358362 |
2011 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Nerve biopsy confirmed amyloid deposits in nerves, and molecular genetic analysis showed a mutation of the transthyretin (V30M) gene for 3 patients; the 2 other patients had acquired amyloidosis.
|
22190302 |
2012 |
|
Amyloidosis
|
|
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 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis.
|
23225390 |
2012 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
This phase II, open-label, single-treatment arm study evaluated the pharmacodynamics, efficacy, and safety of tafamidis in patients with non-Val30Met transthyretin (TTR) amyloidosis.
|
24101373 |
2013 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis.
|
25475560 |
2015 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The type of amyloidosis was AL in 51 patients (55.4%), non-V30M mutant ATTR in 10 (10.9%), V30M mutant ATTR in 8 (8.7%), serum amyloid A-derived amyloidosis (AA) in 6 (6.5%), wild-type ATTR in 4 (4.3%), gelsolin in 3 (3.3%), and unclassified in 10 (10.9%).
|
25828388 |
2015 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Can echocardiography and ECG discriminate hereditary transthyretin V30M amyloidosis from hypertrophic cardiomyopathy?
|
26104852 |
2015 |
|
Amyloidosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed the relationship between the occurrence of acquired amyloidosis and clinical features in 22 consecutive domino liver donors with hereditary TTR amyloidosis (10 males and 12 females; mean age at DLT: 37.2 years; TTR mutations: V30M [n = 19], Y114C [n = 1], L55P [n = 1], and S50I [n = 1]) and 22 liver recipients (16 males and 6 females; mean age at DLT, 46.2 years).
|
26600212 |
2016 |