Modeling familial British and Danish dementia

Holly Garringer, Jill Murrell, Luciano D'Adamio, Bernardino Ghetti, Ruben Vidal

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Familial British dementia (FBD) and familial Danish dementia (FDD) are two autosomal dominant neurodegenerative diseases caused by mutations in the BRI2 gene. FBD and FDD are characterized by widespread cerebral amyloid angiopathy (CAA), parenchymal amyloid deposition, and neurofibrillary tangles. Transgenic mice expressing wild-type and mutant forms of the BRI2 protein, Bri2 knock-in mutant mice, and Bri2 gene knock-out mice have been developed. Transgenic mice expressing a human FDD-mutated form of the BRI2 gene have partially reproduced the neuropathological lesions observed in FDD. These mice develop extensive CAA, parenchymal amyloid deposition, and neuroinflammation in the central nervous system. These animal models allow the study of the molecular mechanism(s) underlying the neuronal dysfunction in these diseases and allow the development of potential therapeutic approaches for these and related neurodegenerative conditions. In this review, a comprehensive account of the advances in the development of animal models for FBD and FDD and of their relevance to the study of Alzheimer disease is presented.

Original languageEnglish
Pages (from-to)235-244
Number of pages10
JournalBrain Structure and Function
Volume214
Issue number2-3
DOIs
StatePublished - Mar 2010

Fingerprint

Cerebral Amyloid Angiopathy
Amyloid
Transgenic Mice
Animal Models
Gene Knockout Techniques
Neurofibrillary Tangles
Knockout Mice
Neurodegenerative Diseases
Genes
Alzheimer Disease
Central Nervous System
Familial Danish dementia
Familial British Dementia
Mutation
Proteins
Therapeutics

Keywords

  • Amyloid
  • CAA
  • FBD
  • FDD
  • Mouse models
  • Neurodegeneration
  • Neuroinflammation

ASJC Scopus subject areas

  • Anatomy
  • Histology
  • Neuroscience(all)

Cite this

Modeling familial British and Danish dementia. / Garringer, Holly; Murrell, Jill; D'Adamio, Luciano; Ghetti, Bernardino; Vidal, Ruben.

In: Brain Structure and Function, Vol. 214, No. 2-3, 03.2010, p. 235-244.

Research output: Contribution to journalArticle

Garringer, Holly ; Murrell, Jill ; D'Adamio, Luciano ; Ghetti, Bernardino ; Vidal, Ruben. / Modeling familial British and Danish dementia. In: Brain Structure and Function. 2010 ; Vol. 214, No. 2-3. pp. 235-244.
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