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Xeroderma pigmentosum (XP) is a rare, life-threatening recessive disorder of nucleotide excision repair (NER). XP is associated with severe sensitivity to sunlight, resulting in multiple skin and ocular cancers. Four of the eight genetic variants, especially XP-A (the most prevalent), may be associated with effects, both systemic (short stature and gonadal atrophy) and neurologic, uncorrelated with the severity of the skin and ocular diseases. The authors followed 16 Finnish patients for up to 23 years; they provide a comprehensive description of the course of disease in these patients.
The genetic variant was determined for 14 patients. The 2 with XP-C were neurologically normal. The 10 with XP-A and the 2 with XP-G had neurologic manifesta…