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44 reviewsSUMMARYAtaxia-telangiectasia (A-T) is a hereditary neurodegenerative disorder caused by mutations in the ATM(ataxia-telangiectasia mutated) gene. Although existing rodent models reproduce some of the multi-systemicfeatures of A-T, they notably fail to recapitulate the severe neurological manifestations, particularly the profound cerebellar atrophy and associated ataxia. To address this limitation, we have generated ATM-deficientrhesus macaques using CRISPR-Cas9. These macaques exhibit hallmark features of A-T, including growthretardation, lymphopenia, elevated a-fetoprotein levels, oculocutaneous telangiectasias, heightened sensitivity to ionizing radiation, and most critically, cerebellar atrophy, Purkinje cell loss, and early-stage cerebellarneurodegeneration leading to significant motor impairments. Single-nucleus transcriptomic profiling of thecerebellum revealed pronounced gene expression changes associated with ATM deficiency, particularly inmolecular layer interneurons (MLIs), which are implicated in Purkinje cell loss. This non-human primate modelprovides deeper insights into the pathogenesis of A-T and represents a promising and valuable platform fordeveloping therapeutic strategies.
