Review - Chromosome 13 dementia syndromes as models of neurodegeneration

J Ghiso; T Revesz; J Holton; A Rostagno; T Lashley; H Houlden; G Gibb; B Anderton; T Bek; M Bojsen-Moller; N Wood; R Vidal; H Braenagaard; G Plant; B Frangione

Review - Chromosome 13 dementia syndromes as models of neurodegeneration

J Ghiso, T Revesz, J Holton, A Rostagno, T Lashley, H Houlden, G Gibb, B Anderton, T Bek, M Bojsen-Moller, N Wood, R Vidal, H Braenagaard, G Plant, B Frangione

King's College London

Research output: Contribution to journal › Literature review › peer-review

25 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, A Bri 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 language	English
Pages (from-to)	277 - 284
Number of pages	8
Journal	AMYLOID
Volume	8
Issue number	4
Publication status	Published - 2001

Cite this

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title = "Review - Chromosome 13 dementia syndromes as models of neurodegeneration",

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, A Bri 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.",

author = "J Ghiso and T Revesz and J Holton and A Rostagno and T Lashley and H Houlden and G Gibb and B Anderton and T Bek and M Bojsen-Moller and N Wood and R Vidal and H Braenagaard and G Plant and B Frangione",

year = "2001",

language = "English",

volume = "8",

pages = "277 -- 284",

journal = "AMYLOID",

publisher = "Informa Healthcare",

number = "4",

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TY - JOUR

T1 - Review - Chromosome 13 dementia syndromes as models of neurodegeneration

AU - Ghiso, J

AU - Revesz, T

AU - Holton, J

AU - Rostagno, A

AU - Lashley, T

AU - Houlden, H

AU - Gibb, G

AU - Anderton, B

AU - Bek, T

AU - Bojsen-Moller, M

AU - Wood, N

AU - Vidal, R

AU - Braenagaard, H

AU - Plant, G

AU - Frangione, B

PY - 2001

Y1 - 2001

N2 - 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, A Bri 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.

AB - 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, A Bri 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.

M3 - Literature review

VL - 8

SP - 277

EP - 284

JO - AMYLOID

JF - AMYLOID

IS - 4

ER -

Review - Chromosome 13 dementia syndromes as models of neurodegeneration

Abstract

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