Paulo P Costa

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Amyloid fibril protein in patients with familial amyloidotic polyneuropathy is known to be chemically related to transthyretin (TTR), the plasma protein that is usually referred to as prealbumin. A genetically abnormal TTR may be involved in this disease. Studies were conducted on amyloid fibril protein (AFp) isolated from tissues of two Portuguese patients(More)
In summary, these studies have demonstrated the following: 1) plasma TTR levels are significantly decreased in Portuguese patients with FAP; 2) FAP-TTR is indistinguishable from normal TTR with regard to a wide range of physiochemical properties; 3) RBP levels and vitamin A transport appear to be normal in FAP patients; 4) an abnormal TTR with a methionine(More)
Amyloid deposits in several heredofamilial forms of amyloidosis are known to be chemically related to transthyretin (TTR, the plasma protein usually referred to as prealbumin). A genetic mutation, leading to an abnormal TTR, may be involved. Studies were conducted to investigate whether or not Portuguese patients with familial amyloidotic polyneuropathy(More)
Amyloid fibrils were concentrated from the kidney, thyroid, and peripheral nerve of six patients with familial amyloidotic polyneuropathy (FAP). The fibril concentrates were solubilized in 6 M guanidine.HCl and fractionated on Sephadex G-100 columns. The elution profile of all FAP amyloid fibril concentrates revealed a protein of apparent Mr of 14,000,(More)
BACKGROUND The association between susceptibility to multiple sclerosis (MS) and HLA-DRB1*15 has been reported in various European populations. OBJECTIVE To investigate the relationship between MS, HLA-DRB1*15 and other DRB1 alleles in a Portuguese population and their association with clinical course of MS. METHODS The HLA-DRB1 alleles were analyzed by(More)
We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. These TTR variants were previously detected by isoelectric focusing (IEF); one is a neutral TTR variant and the(More)
Two studies were conducted to explore questions concerning the expression of a mutant transthyretin (TTR) gene, found in Portuguese patients with familial amyloidotic polyneuropathy (FAP). In a kindred with typical onset of the disease, complete agreement between genotype and phenotype was seen for all carriers of the variant TTR with a(More)
The first Swedish case of familial amyloidotic polyneuropathy (FAP) was published in 1965. The same transthyretin (TTR met30) mutation as that seen in Japanese, Portuguese, and other populations was also found in Swedish FAP patients. More than 350 patients with clinical manifestations of FAP have been diagnosed in northern Sweden, most of them originating(More)
Familial amyloid polyneuropathy (FAP) is a hereditary disease which eventually causes serious ocular problems. Seven eyes from patients with FAP 1 were vitrectomised, and the insoluble proteins from the vitreous were purified, the amyloid protein isolated, and the prealbumin characterised with a monoclonal antibody against amyloid fibril protein. Before(More)
OBJECTIVE To evaluate the oxidative state in patients with familial amyloidotic polyneuropathy type 1 (FAP1). DESIGN From 3 unrelated families, patients with FAP1 carrying a transthyretin Met-30 mutation were studied. The diagnosis was confirmed by genetic analysis. Eleven of 21 patients carried the mutation; all were symptomatic and were clinically(More)