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Defects in cellular DNA repair processes have been linked to genome instability, heritable cancers, and premature aging syndromes. Yet defects in some repair processes manifest themselves primarily in neuronal tissues. This review focuses on studies defining the molecular defects associated with several human neurological disorders, particularly ataxia with oculomotor apraxia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy 1 (SCAN1). A picture is emerging to suggest that brain cells, due to their nonproliferative nature, may be particularly prone to the progressive accumulation of unrepaired DNA lesions.

Original publication




Journal article



Publication Date





991 - 1004


Animals, Apraxias, Ataxia Telangiectasia, Axons, DNA Breaks, Single-Stranded, DNA Repair, DNA Repair Enzymes, DNA-Binding Proteins, Genetic Predisposition to Disease, Genomic Instability, Humans, Models, Molecular, Mutation, Nerve Degeneration, Neurodegenerative Diseases, Neurons, Nuclear Proteins, Oculomotor Nerve Diseases, Phosphoric Diester Hydrolases, Protein Conformation, Protein Structure, Tertiary, Spinocerebellar Ataxias, Zinc Fingers