Insoluble protein fibrils resulting from the self-assembly of a conformational intermediate are implicated as the causative agent in several severe human amyloid diseases, including Alzheimer's disease, familial amyloid polyneuropathy, and senile systemic amyloidosis. The latter two diseases are associated with transthyretin (TTR) amyloid fibrils, which appear to form in the acidic partial dena...

OBJECTIVES We sought to investigate the psychosocial determinants of quality of life at 6 months after transplantation. METHODS A sample of liver transplant candidates (n = 60), composed of consecutive patients (25% with familial amyloid polyneuropathy [FAP]) attending outpatient clinics was assessed in the pretransplant period using the Neo Five Factor Inventory, Hospital Anxiety and depress...

To clarify the role of the sympathetic nervous system in the development of cyclosporine A (CsA)-induced rise in blood pressure (BP), the effects of CsA on 24-hour ambulatory BP (ABP) were studied in patients with familial amyloid polyneuropathy (FAP) who underwent a liver transplantation. On the basis of autonomic function tests, patients with absent or mild-to-moderate sympathetic damage (Gro...

BACKGROUND AND PURPOSE To better characterize the effects of tafamidis in non-Val30Met patients with transthyretin familial amyloid polyneuropathy, this post hoc analysis compared the neurological results from a 12-month, open-label study of non-Val30Met versus Val30Met patients at month 12 from the 18-month, double-blind, placebo-controlled registration study. A baseline covariate adjusted ana...

Development and preclinical evaluation of therapies for spinal muscular atrophy A. Burghes , K. Foust , V. McGovern , P. Poresnsky , A. Bevan , S. Duque , T. Le , C. Iyer , A. Laporte , I. Alwin , C. Mitrpant , S. Wilton , B. Kaspar b Ohio State University, Molecular and Cellular Biochemistry, Columbus, OH, United States; Nation Wide Children’s Hospital, Gene Therapy Center, Columbus, OH, Unite...

PURPOSE OF REVIEW Early and accurate diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with idiopathic progressive neuropathy. There is little consensus in diagnostic and management approaches across Europe. RECENT FINDINGS The low prevalence of TTR-FAP across Europe and the high variation i...

Amyloid deposits often involve the heart and cause disturbances in conduction and impulse formation in patients with familial amyloid polyneuropathy (FAP). Seven patients with FAP required pacemaker treatment during eight years. The most frequent bradyarrhythmias requiring pacing were sinus node dysfunction with junctional failure. Our seven patients had attacks and symptoms of bradyarrhythmias...

A cluster of cases of familial amyloid polyneuropathy has been described in Donegal, north west Ireland. Two patients from this region have been shown to have the ala 60 mutation in the transthyretin gene. Three kindreds with this mutation have also been described in the United States. Genealogical and haplotype studies indicate that all known patients with this mutation are related and are des...

Background Ocular manifestations of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) mainly include keratoconjunctivitis sicca, secondary glaucoma and vitreous deposits. Because liver transplantation (LT) and symptomatic treatments greatly improve life expectancy of patients, ocular involvement is becoming a more frequent challenge to address. We aimed at studying the prevalence ...

Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature...