Neurological Symptoms in Xeroderma Pigmentosum
In patients with xeroderma pigmentosum (XP), especially group A (XP-A), serious neurological complications are frequently observed. During the second decade of life, the both central and peripheral nervous systems become severely deteriorated resulting in serious problems for daily activity and life expectancy. Brain MRI shows progressive atrophy in all components, such as the cerebral cortex, white matter, brainstem, and cerebellum, and nerve conduction studies reveal sensory dominant axonal neuropathy in all extremities. The precise mechanisms remain unclear and no effective treatments are available.