Cited by 300Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyloidosis: Diagnosis, Treatment, Outcomes

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A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

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Vidal, Ruben, Révész, Tamas, Rostagno, Agueda, Kim, Eugene, Holton, Janice L., Bek, Toke, Bojsen-Møller, Marie, Braendgaard, Hans, Plant, Gordon, Ghiso, Jorge, Frangione, Blas·2000·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.080076097PMC PMC18333

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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 duplication mutation produces a frame-shift in the BRI sequence generating a larger-than-normal precursor protein, of which the amyloid subunit (designated ADan) comprises the last 34 C-terminal amino acids. This de novo- created amyloidogenic peptide, associated with a genetic defect in the Danish kindred, stresses the importance of amyloid formation as a causative factor in neurodegeneration and dementia.

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Authors: Vidal, R., Révész, T., Rostagno, A., Kim, E., Holton, J. L., Bek, T., Bojsen-Møller, M., Braendgaard, H., Plant, G., Ghiso, J., & Frangione, B.
Affiliations: Department of Pathology, New York University School of Medicine, New York 10016; Department of Neuropathology, Institute of Neurology, London, WC1N3BG United Kingdom; Departments of Ophthalmology, Neuropathology and Neurology, Århus University Hospital, Århus, DK8000 Denmark; and The National Hospital for Neurology and Neurosurgery, London, WC1N3BG United Kingdom
Aarhus University (DK)
ORCID: Rostagno, Agueda
Holton, Janice L.
Bek, Toke
Plant, Gordon
Ghiso, Jorge
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2000-04-18
Volume: 97
Issue: 9
Pages: 4920-4925
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.080076097
PMC: PMC18333
OpenAlex: W2137091415
Cited by: 300
References: 18
Citations by year: 2026: 1 · 2025: 8 · 2024: 7 · 2023: 8 · 2022: 15 · 2021: 16 · 2020: 13 · 2019: 8 · 2018: 10 · 2017: 9 · 2016: 14 · 2015: 19 · 2014: 11 · 2013: 9 · 2012: 8
FWCI: 9.41
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Funders: National Institutes of Health (5r35ag010953-07)
National Institute on Aging (R37AG005891, R01AG008721, AG-08721, AG10953, AG05891)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › Internal Medicine › Amyloidosis: Diagnosis, Treatment, Outcomes
Keywords: familial Danish dementia, amyloid peptides, Adán, cerebral amyloid angiopathy, frameshift mutation, de novo mutations, neurodegeneration
MeSH terms: Amino Acid Sequence, Amyloid, Base Sequence, Dementia, Denmark, Female, Humans, Male, Membrane Glycoproteins, Membrane Proteins, Molecular Sequence Data, Pedigree, Temporal Lobe, Sequence Alignment, Sequence Homology, Amino Acid, 3' Untranslated Regions, Gene Duplication, White People, Adaptor Proteins, Signal Transducing

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A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

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