|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
The V30M to wild type TTR ratio in plasma is the same for all ATTR patients studied, showing no variation with disease clinical progression.
|
22080762 |
2011 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
|
15804246 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced).
|
20937937 |
2011 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, SMT readily disappeared in the plasma of V30M - FAP patients after liver transplantation and appeared in plasma of transplanted domino individuals that received a V30M liver.
|
23387326 |
2013 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. Longer disease duration after LT can provide the necessary time for transthyretin amyloidosis to progress until it becomes clinically relevant.
|
25091367 |
2015 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met.
|
10611950 |
1999 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
To evaluate the therapeutic efficacy of liver transplantation in patients with ATTR Val30Met familial amyloid polyneuropathy (FAP), were repeatedly examined the neurophysiological function of peripheral nerves in nine patients.
|
12762137 |
2003 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein.
|
15949223 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
The overall 5-year survival rate is approximately 100% for V30M patients and 59% for non-ATTR V30M patients.
|
25482846 |
2015 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families.
|
30811423 |
2019 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
In addition, the presence of an autoantibody against ATTR Val30Met was evaluated via ELISA using purified ATTR Val30Met from homozygotic FAP patients' sera.
|
11907422 |
2002 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
FAP with TTR Val30Met mutation in Japan can be classified to (i) early-onset and endemic (Nagano and Kumamoto), (ii) late-onset and endemic (Ishikawa), and (iii) late-onset and non-endemic types.
|
18410945 |
2008 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
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 |