title: Hereditary amyloidosis: evidence against early amyloid deposition.
abstract: Twelve members of the Indiana hereditary amyloidosis type II kindred were tested for the presence of amyloid deposits. All were young adults (age 26-37), with no evidence of disease and with 1 affected parent. Six were found to be carriers of the variant gene, by DNA testing and/or reduced serum retinol-binding protein levels. Nevertheless, no amyloid could be found in any skin, rectal, or carpal tunnel biopsy specimens. Our results suggest that hereditary amyloidosis type II is a true late-onset disease, in which accumulation of amyloid does not start until late in life--perhaps only a short time before symptoms appear.
authors.affiliation: Department of Medicine and Medical Genetics, Indiana University School of Medicine, Indianapolis.
authors.forename: N
authors.initials: N
authors.lastname: Harats
authors.forename: R M
authors.initials: RM
authors.lastname: Worth
authors.forename: M D
authors.initials: MD
authors.lastname: Benson
mesh_terms: D000328:Adult; D000682:Amyloid / Q000032:analysis / Q000378:metabolism*; D000686:Amyloidosis / Q000235:genetics* / Q000378:metabolism; D002348:Carpal Bones / Q000032:analysis; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D008022:Ligaments / Q000032:analysis; D008297:Male; D009693:Nucleic Acid Hybridization; D011228:Prealbumin / Q000235:genetics / Q000378:metabolism; D012007:Rectum / Q000032:analysis; D012177:Retinol-Binding Proteins / Q000378:metabolism; D012694:Serine / Q000235:genetics; D012867:Skin / Q000032:analysis
chemical_list: D000682:Amyloid; D011228:Prealbumin; D012177:Retinol-Binding Proteins; D012694:Serine; D004247:DNA