NeuralCipher Research overview
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BackgroundXeroderma pigmentosum (XP) is a rare autosomal recessive DNA-repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one-third of patients. Emerging evidence suggests an increased risk of internal malignancies, particularly primary central nervous system (CNS) tumors.ObjectiveThe aim of this work was to describe primary CNS tumors in patients with XP managed at the UK National XP Service and to review the literature.MethodsWe retrospectively identified five genetically confirmed XP patients with primary CNS tumors followed longitudinally within the multidisciplinary UK National XP Service, including regular neurological evaluation.ResultsFive patients (aged 20-79 years) developed primary CNS tumors: three XP-C and two XP-A. Tumors included gliomas, meningiomas, and subependymoma. CNS tumors occurred predominantly in younger patients with XP-C, whereas late-onset, slow-growing meningiomas were observed in milder XP-A phenotypes. One patient with XP-C died of glioblastoma.ConclusionsXP is associated with primary CNS tumor risk, particularly in XP-C and late-onset XP-A, supporting regular neurological assessment and targeted neuroimaging. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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