{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Vidal R"],"funding":["NIA NIH HHS"],"pagination":["4920-5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC18333"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["97(9)"],"pubmed_abstract":["Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia. Neuropathological findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer's disease. N-terminal sequence analysis of isolated leptomeningeal amyloid fibrils revealed homology to ABri, the peptide originated by a point mutation at the stop codon of gene BRI in familial British dementia. Molecular genetic analysis of the BRI gene in the Danish kindred showed a different defect, namely the presence of a 10-nt duplication (795-796insTTTAATTTGT) between codons 265 and 266, one codon before the normal stop codon 267. The decamer "],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred."],"pmcid":["PMC18333"],"funding_grant_id":["R01 AG008721","AG08721","R37 AG005891","AG10953","AG05891"],"pubmed_authors":["Braendgaard H","Ghiso J","Kim E","Rostagno A","Holton JL","Frangione B","Plant G","Revesz T","Vidal R","Bek T","Bojsen-Moller M"],"additional_accession":[]},"is_claimable":false,"name":"A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred.","description":"Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia. Neuropathological findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer's disease. N-terminal sequence analysis of isolated leptomeningeal amyloid fibrils revealed homology to ABri, the peptide originated by a point mutation at the stop codon of gene BRI in familial British dementia. Molecular genetic analysis of the BRI gene in the Danish kindred showed a different defect, namely the presence of a 10-nt duplication (795-796insTTTAATTTGT) between codons 265 and 266, one codon before the normal stop codon 267. The decamer ","dates":{"release":"2000-01-01T00:00:00Z","publication":"2000 Apr","modification":"2025-04-04T22:06:26.07Z","creation":"2019-03-27T00:17:46Z"},"accession":"S-EPMC18333","cross_references":{"pubmed":["10781099"],"doi":["10.1073/pnas.080076097"]}}