Chromosome 13 dementia syndromes as models of neurodegeneration

J. Ghiso, T. Révész, J. Holton, A. Rostagno, T. Lashley, H. Houlden, G. Gibb, B. Anderton, T. Bek, M. Bojsen-Møller, N. Wood, Ruben Vidal, H. Braendgaard, G. Plant, B. Frangione

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Two hereditary conditions, familial British dementia (FBD) and familial Danish dementia (FDD), are associated with amyloid deposition in the central nervous system and neurodegeneration. The two amyloid proteins, ABri and ADan, are degradation products of the same precursor molecule BriPP bearing different genetic defects, namely a Stop-to-Arg mutation in FBD and a ten-nucleotide duplication-insertion immediately before the stop codon in FDD. Both de novo created amyloid peptides have the same length (34 amino acids) and the same post-translational modification (pyroglutamate) at their N-terminus. Neurofibrillary tangles containing the classical paired helical filaments as well as neuritic components in many instances co-localize with the amyloid deposits. In both disorders, the pattern of hyperphosphorylated tau immunoreactivity is almost indistinguishable from that seen in Alzheimer's disease. These issues argue for the primary importance of the amyloid deposits in the mechanism(s) of neuronal cell loss. We propose FBD and FDD, the chromosome 13 dementia syndromes, as models to study the molecular basis of neurofibrillary degeneration, cell death and amyloid formation in the brain.

Original languageEnglish (US)
Pages (from-to)277-284
Number of pages8
JournalAmyloid
Volume8
Issue number4
StatePublished - 2001
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 13
Amyloid
Dementia
Amyloid Plaques
Abrus
Pyrrolidonecarboxylic Acid
Amyloidogenic Proteins
Neurofibrillary Tangles
Terminator Codon
Post Translational Protein Processing
Alzheimer Disease
Cell Death
Nucleotides
Central Nervous System
Peptides
Mutation
Brain
Familial Danish dementia
Familial British Dementia

Keywords

  • ABri
  • ADan, familial British dementia
  • Amyloidosis
  • Familial Danish dementia
  • Neurofibrillary tangles
  • Perivascular lesions
  • Vascular amyloid

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

Ghiso, J., Révész, T., Holton, J., Rostagno, A., Lashley, T., Houlden, H., ... Frangione, B. (2001). Chromosome 13 dementia syndromes as models of neurodegeneration. Amyloid, 8(4), 277-284.

Chromosome 13 dementia syndromes as models of neurodegeneration. / Ghiso, J.; Révész, T.; Holton, J.; Rostagno, A.; Lashley, T.; Houlden, H.; Gibb, G.; Anderton, B.; Bek, T.; Bojsen-Møller, M.; Wood, N.; Vidal, Ruben; Braendgaard, H.; Plant, G.; Frangione, B.

In: Amyloid, Vol. 8, No. 4, 2001, p. 277-284.

Research output: Contribution to journalArticle

Ghiso, J, Révész, T, Holton, J, Rostagno, A, Lashley, T, Houlden, H, Gibb, G, Anderton, B, Bek, T, Bojsen-Møller, M, Wood, N, Vidal, R, Braendgaard, H, Plant, G & Frangione, B 2001, 'Chromosome 13 dementia syndromes as models of neurodegeneration', Amyloid, vol. 8, no. 4, pp. 277-284.
Ghiso J, Révész T, Holton J, Rostagno A, Lashley T, Houlden H et al. Chromosome 13 dementia syndromes as models of neurodegeneration. Amyloid. 2001;8(4):277-284.
Ghiso, J. ; Révész, T. ; Holton, J. ; Rostagno, A. ; Lashley, T. ; Houlden, H. ; Gibb, G. ; Anderton, B. ; Bek, T. ; Bojsen-Møller, M. ; Wood, N. ; Vidal, Ruben ; Braendgaard, H. ; Plant, G. ; Frangione, B. / Chromosome 13 dementia syndromes as models of neurodegeneration. In: Amyloid. 2001 ; Vol. 8, No. 4. pp. 277-284.
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