title: DNA strand break repair and neurodegeneration.
abstract: A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive. The exact developmental processes that are affected can influence disease pathology, with symptoms ranging from early embryonic lethality to late-onset ataxia. The category these diseases belong to depends on the frequency of lesions arising in the brain, the role of the defective repair pathway, and the nature of the mutation within the patient. Using observations from patients and transgenic mice, we discuss the importance of double strand break repair during neuroprogenitor proliferation and brain development and the repair of single stranded lesions in neuronal function and maintenance.
authors.affiliation: Genome Damage and Stability Centre, Science Park Road, Falmer, Brighton BN1 9RQ, UK. s.l.rulten@sussex.ac.uk
authors.forename: Stuart L
authors.initials: SL
authors.lastname: Rulten
authors.forename: Keith W
authors.initials: KW
authors.lastname: Caldecott
mesh_terms: D000818:Animals; D001921:Brain / Q000254:growth & development / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics / Q000378:metabolism; D053904:DNA Breaks, Single-Stranded; D004249:DNA Damage / Q000235:genetics*; D049914:DNA Repair-Deficiency Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D055495:Neurogenesis / Q000235:genetics; D009474:Neurons / Q000378:metabolism / Q000473:pathology
keywords: DNA damage; DNA repair; ataxia; development; microcephaly; neurodegeneration