Cellular and Molecular Life Sciences CMLS

, Volume 62, Issue 16, pp 1814–1825

Chromosome 13 dementias

  • A. Rostagno
  • Y. Tomidokoro
  • T. Lashley
  • D. Ng
  • G. Plant
  • J. Holton
  • B. Frangione
  • T. Revesz
  • J. Ghiso
Review

Abstract.

The importance of cerebral amyloid deposition in the mechanism of neurodegeneration is still debatable. Classic arguments are usually centered on amyloid β(Aβ) and its role in the neuronal loss characteristic of Alzheimer’s disease, the most common form of human cerebral amyloidosis. Two non-Aβ cerebral amyloidoses, familial British and Danish dementias (FBD and FDD), share many aspects of Alzheimer’s disease, including the presence of neurofibrillary tangles, parenchymal preamyloid and amyloid deposits, cerebral amyloid angiopathy and a variety of amyloid-associated proteins and inflammatory components. Both early-onset conditions are linked to specific mutations at or near the stop codon of the chromosome 13 gene BRI2 that cause generation of longer-than-normal protein products. Furin-like processing of these longer precursors releases two de novo-created peptides, ABri and ADan, which deposit as amyloid fibrils in FBD and FDD, respectively. Due to the similar pathology generated by completely unrelated amyloid subunits, FBD and FDD, collectively referred to as chromosome 13 dementias, constitute alternative models for studying the role of amyloid deposition in the mechanism of neuronal cell death.

Key words.

Familial British dementia familial Danish dementia congophilic amyloid angiopathy ABri ADan cerebral amyloidosis amyloid β Alzheimer’s disease 

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Copyright information

© Birkhäuser Verlag, Basel 2005

Authors and Affiliations

  • A. Rostagno
    • 1
  • Y. Tomidokoro
    • 1
  • T. Lashley
    • 3
  • D. Ng
    • 1
  • G. Plant
    • 4
  • J. Holton
    • 3
  • B. Frangione
    • 1
    • 2
  • T. Revesz
    • 3
  • J. Ghiso
    • 1
    • 2
  1. 1.Department of PathologyNew York University School of MedicineNew YorkUSA
  2. 2.Department of PsychiatryNew York University School of MedicineNew YorkUSA
  3. 3.Queen Square Brain Bank, Department of Molecular Neuroscience and Division of NeuropathologyInstitute of NeurologyLondonUnited Kingdom
  4. 4.National Hospital for Neurology and NeurosurgeryLondonUnited Kingdom

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