The appropriateness of the mouse model for ataxia-telangiectasia: Neurological defects but no neurodegeneration

Lavin, Martin F. (2013) The appropriateness of the mouse model for ataxia-telangiectasia: Neurological defects but no neurodegeneration. Dna Repair, 12 8: 612-619. doi:10.1016/j.dnarep.2013.04.014


Author Lavin, Martin F.
Title The appropriateness of the mouse model for ataxia-telangiectasia: Neurological defects but no neurodegeneration
Journal name Dna Repair   Check publisher's open access policy
ISSN 1568-7864
1568-7856
Publication date 2013-08
Year available 2013
Sub-type Article (original research)
DOI 10.1016/j.dnarep.2013.04.014
Volume 12
Issue 8
Start page 612
End page 619
Total pages 8
Place of publication Amsterdam, The Netherlands
Publisher Elsevier BV
Collection year 2014
Language eng
Formatted abstract
Patients with ataxia-telangiectasia (A-T) are characterised by genome instability, cancer predisposition and a progressive neurodegeneration. A number of model systems have been developed for A-T but none recapitulate all the phenotype. The majority of these models have been generated in mice. While Atm deficient mouse models exhibit much of the phenotype described in patients with A-T, the broad consensus is that they do not display the most debilitating aspect of A-T, i.e. neurodegeneration. Cerebellar atrophy is one of the neuronal characteristics of A-T patients due to defects in neuronal development and progressive loss of Purkinje and granule cells. This is not evident in Atm-deficient mutants but there are multiple reports on neurological abnormalities in these mice. The focus of this review is to evaluate the appropriateness of Atm mutant mouse models for A-T, particularly with reference to neurological abnormalities and how they might relate to neurodegeneration.
Keyword Ataxia Telangiectasia
Atm
Mouse models
Neurodegeneration
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
Official 2014 Collection
 
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Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
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