TTR is the main constituent of amyloid that deposits preferentially in peripheral nerve giving rise to familial amyloid polyneuropathy (FAP), or in the heart leading to familial amyloid cardiomyopathy.
A case of familial amyloid polyneuropathy homozygous for the transthyretinVal30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.
Some types of TTR-amyloidosis (such as familial amyloid polyneuropathy) are associated with various amino acid point mutations, while cardiac amyloid myopathy may also be associated with precipitation of the wild-type molecules, e.g., in senile systemic amyloidosis.
Fibril formation by WT transthyretin (TTR) or TTR variants has been linked to the etiology of systemic amyloidosis and familial amyloid polyneuropathy, respectively.
Sensory nerve degeneration and consequent abnormal sensations are the earliest and most prevalent manifestations of familial amyloid polyneuropathy (FAP) due to amyloidogenic transthyretin (TTR).
ATTR, caused by amyloid-forming variant TTR proteins (ATTRm) that arise from point mutations in the TTR gene, were classically referred to as familial amyloid cardiomyopathy (FAC) or familial amyloid polyneuropathy (FAP), reflecting the clinical phenotype.
The relationship between familial amyloid polyneuropathy (FAP), which is caused by mutated transthyretin (TTR), and inflammation has only recently been noted.
Transthyretinfamilial amyloid polyneuropathy is a rare, autosomal-dominant inherited multisystem disorder usually manifesting with a rapidly progressive, axonal, distally-symmetric polyneuropathy.
However, the effects of these differences on the amyloid formation mechanism in familial amyloid polyneuropathy (FAP) caused by variant TTR, have remained unclear.
Tafamidis delays disease progression in patients with early stage transthyretinfamilial amyloid polyneuropathy: additional supportive analyses from the pivotal trial.
Familial amyloid polyneuropathy (FAP) is an autosomal dominant disease characterized by deposition of amyloid related to the presence of mutations in the transthyretin (TTR) gene.
Familial amyloid polyneuropathy (FAP) is a neurodegenerative disorder associated with extracellular deposition of mutant transthyretin (TTR) amyloid fibrils, particularly in the peripheral nervous system.
<b>Background</b>: Retinal amyloid angiopathy is a sight-threatening complication of familial amyloid polyneuropathy (FAP) caused by pathological deposition of transthyretin.
We describe, for the first time, the efficacy of spinal cord stimulation for refractory neuropathic pain in a patient with transthyretinVal30Met associated familial amyloid polyneuropathy (FAP ATTRVal30Met).
Although TTR mutations were mostly associated with familial amyloid polyneuropathy (FAP), these molecular variants were also found in patients with recurrent stroke, subarachnoidal bleeding and radiological findings of cerebral, cerebellar, cortical-subcortical infarctions and hemosiderosis.We describe a 46 y.o. man with recurrent cerebral haemorrhages carrying Asn90His variant of TTR gene.