Calls to assess neurological symptoms of rare genetic disorder

Neurological signs and symptoms of the different subgroups of a rare condition, called xeroderma pigmentosum (XP), have been systematically characterised for the first time by researchers at UCL and the UK National Xeroderma Pigmentosum Service. XP is a group of rare genetic disorders, affecting around 120 people in the UK, in which patients are not able to repair the damage in their DNA caused by ultraviolet radiation (UVR). Consequently, they are hyper-sensitive to sunlight and can develop exaggerated sunburn upon minimal sun exposure from an early age. This chronic DNA damage causes symptoms such as lentigines (freckle-like spots on the skin), and multiple skin cancer and ocular issues. Some cases also develop neurological symptoms that impact patients' quality of life, and that can be an important cause of morbidity and mortality over time. Across the world, the condition is usually managed by dermatologists and the only preventative treatment available is meticulous photoprotection - such as minimising exposure to sunlight, wearing sunscreen, protective clothing and adapting environments (for example, using UVR protective window film). However, the new research, published in Brain , found that nearly 40% of patients with XP develop neurological problems, including spinocerebellar ataxia which leads to difficulties with balance, speech, and a lack of coordination in the limbs.