Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.

@article{Robbins1991NeurologicalDI,
  title={Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form.},
  author={Jacob Robbins and Roger A. Brumback and M Mendiones and S F Barrett and Jaya R. Carl and S Y Cho and Martha B. Denckla and M B Ganges and Lynn H. Gerber and Richard A Guthrie},
  journal={Brain : a journal of neurology},
  year={1991},
  volume={114 ( Pt 3)},
  pages={1335-61}
}
Xeroderma pigmentosum (XP) is an autosomal recessive, neurocutaneous disorder characterized by sunlight-induced skin cancers and defective DNA repair. Many XP children develop a primary neuronal degeneration. We describe 2 unusual XP patients who had a delayed onset of XP neurological disease. Somatic cell genetic studies indicated that they have the same defective DNA repair gene and are both in XP complementation group A. These 2 patients, together with a group A patient previously reported… CONTINUE READING