Biomaterial Database

Familial amyloid polyneuropathy. 1993

M M Reilly, and R H King

University Department of Clinical Neurology, Institute of Neurology, London, U.K.

Familial amyloid polyneuropathy (FAP) is most commonly associated with variant plasma transthyretin, although it has also been described in association with mutant apolipoprotein A-1 and gelsolin. There are now approximately 26 point mutations in the transthyretin gene associated with FAP. Because of the overlapping clinical phenotypes described with these mutations, it is now more appropriate to classify the various forms of FAP according to the underlying genetic defect rather than on clinical grounds. Many questions concerning the amyloidogenic nature of transthyretin and the variability of organ involvement depending on the underlying mutation remain unanswered. The recent use of liver transplantation for treatment appears to be promising.

UI	MeSH Term	Description	Entries
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017772	Amyloid Neuropathies	Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)	Neuropathies, Amyloid,Amyloid Neuropathy, Secondary,Amyloid Polyneuropathies,Amyloid Neuropathies, Secondary,Amyloid Neuropathy,Amyloid Polyneuropathy,Neuropathies, Secondary Amyloid,Neuropathy, Amyloid,Neuropathy, Secondary Amyloid,Polyneuropathies, Amyloid,Polyneuropathy, Amyloid,Secondary Amyloid Neuropathies,Secondary Amyloid Neuropathy