title: [Clinical and genetic heterogeneity in familial amyloidotic polyneuropathy associated with variant transthyretin].
abstract: Familial amyloid polyneuropathy (FAP) is an autosomal disease, usually associated with a variant of transthyretin (TTR). To date, about 30 variants of TTR have been described in FAP. Clinical heterogeneity regarding age of onset and organ involvement exists in TTR-related FAP. The age of onset in patients with TTR-Met 30 variant ranges from the third to the seventh decade. The pattern of peripheral neuropathy varies considerably. Lower limb neuropathy is the common mode in cases with Met 30 and other many variants of TTR, while in some cases, upper limb neuropathy with carpal tunnel syndrome is the most important feature. The presence of vitreous opacity is one of the cardinal manifestations in several kindreds (eg. Cys 114, lle 33). The mechanism by which variant TTR affects clinical heterogeneity in FAP is unknown and deserves future study.
authors.affiliation: Department of Neurology, Osaka University Medical School.
authors.forename: N
authors.initials: N
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Ueno
mesh_terms: D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D017772:Amyloid Neuropathies / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011228:Prealbumin / Q000235:genetics*; D012737:Sex Factors
chemical_list: D011228:Prealbumin