In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the affected parent in 68 parent-child pairs (including data on assumed age at onset...

Background The Transthyretin-Familial Amyloid Polyneuropathy (TTR-FAP) is a disease caused by deposition of mutant transthyretin (TTR), produced approximately 95% in the liver and the rest in the plexus choroideus and retina. In 1990 the first TTR-FAP patient liver transplant was performed. The liver transplant, which suppresses TTR synthesis, was the only treatment available to modify this dis...

Background and aims To develop recommendations for vaccination coronavirus-19 (COVID-19) in patients with inflammatory neuropathies. Methods Key questions were formulated order to perform a literature review on the safety efficacy of vaccines Based best evidence expert opinion, list was inform decision COVID-19 neuropathies increase adherence programmes. Results Recommendations addressing formu...

amyloidoma or amyloid tumor is a tumor-like localized deposit of amyloid encountered occasionally in association with multiple myeloma, various chronic inflammatory diseases and primary amyloidosis. amyloid tumors unassociated with plasmacytoma or other disease are extremely rare in soft tissues and few cases in various situations have been reported. histologic examination discloses amorphous e...

BACKGROUND The differential diagnosis of chronic progressive multifocal asymmetric neuropathies is challenging. Vasculitic neuropathies, multifocal forms of chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathies, and asymmetric lower motor neuron disorders are important considerations. CASE PRESENTATION We report a patient with an unusually long 12-year course of non...

When considering a genetic disease with variable age at onset (e.g., familial amyloid neuropathy, cancers), computing the individual risk of the disease based on family history (FH) is of critical interest for both clinicians and patients. Such a risk is very challenging to compute because (1) the genotype X of the individual of interest is in general unknown, (2) the posterior distribution ℙ(X...

PURPOSE OF REVIEW These recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene. RECENT FINDINGS The effectiveness of current treatment options is still lim...

Background Familial amyloid polyneuropathy (FAP) is an inherited disorder with autosomal dominant transmission and multiple phenotypes, characterized by systemic accumulation of amyloid fibrils. The most common type of FAP is related to a mutant transthyretin (TTR). TTR is mainly synthesized in the liver, but few amount of TTR is produced in the eye, namely in retinal pigment epithelium, which ...

Transthyretin (TTR) is a homotetrameric protein that circulates in plasma and cerebral spinal fluid (CSF) whose aggregation into amyloid fibrils has been associated with at least two different amyloid diseases: senile systemic amyloidosis (SSA) and familial amyloid polyneuropathy (FAP). In SSA aggregates are composed of WT-TTR, while in FAP more than 100 already-described variants have been fou...

Transthyretin (TTR) tetramer dissociation and misfolding facilitate assembly into amyloid fibrils that putatively cause senile systemic amyloidosis and familial amyloid polyneuropathy. We have previously discovered more than 50 small molecules that bind to and stabilize tetrameric TTR, inhibiting amyloid fibril formation in vitro. A method is presented here to evaluate the binding selectivity o...