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Background Ataxia-telangiectasia is a syndrome of chromosome instability (CIN) featured by progressive neurodegeneration affecting the cerebellumin in contrast to other brain areas. Previously, progressive neuronal death in AT was hypothesized to be driven by increased post-zygotic CIN in the cerebellum [1-3]. To assess the possible involvement of neural CIN in neurodegenerative pathways we have analyzed CIN in AT brain.

Ataxia-telangiectasia paradoxes: spotlight on post-zygotic chromosome instability in the brain and its contribution to neurodegeneration pathways