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Brain Advance Access originally published online on July 18, 2008
Brain 2008 131(8):1967-1968; doi:10.1093/brain/awn153
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© The Author (2008). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Scientific Commentary

Neurodegeneration in xeroderma pigmentosum

A. M. R. Taylor

CR-UK Institute for Cancer Studies, University of Birmingham

Correspondence to: E-mail: A.M.R.Taylor@bham.ac.uk

The first 10% of the full text of this article appears below.

The inability to repair damage to DNA clearly can have effects on post-mitotic neurons and cause severe CNS symptoms. Ataxia telangiectasia (A-T), ataxia oculomotor apraxia type 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy (SCAN1) all show progressive neurodegeneration. While it is known that these disorders show defective DNA double or single strand break repair, the precise mechanism of the neurodegeneration is still a mystery (reviewed in McKinnon and Caldecott, 2007Go). For these and other disorders like Parkinson's disease, oxidative stress may play an important role in damaging the neuronal DNA. In the case of xeroderma pigmentosum (XP), a very rare recessively inherited skin . . . [Full Text of this Article]


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