@article{oai:niigata-u.repo.nii.ac.jp:00019243, author = {高橋, 均 and 柿田, 明美 and 生田, 房弘}, issue = {7}, journal = {新潟医学会雑誌, 新潟医学会雑誌}, month = {Jul}, note = {Xeroderma pigentosum (XP) is a hereditary disease transmitted as an autosomal recessive trait characterized by a high incidence of sunlight-induced skin cancer, and frequent neurological abnormalities. It is well known that cells from XP patients have a defective DNA repair system. We studied neuropathologically two cases of XP with neurological abnormalities (De Sanctis-Cacchione syndrome). The pattern of topographical distribution and severity of neuron loss in the nervous system appeared to be similar to that seen in aged persons or patients with Alzheimer's disease. However, no senile plaques or neurofibrillary tangles were evident in the present cases. We consider that further studies of this human genetic disease are important for helping to clarify the mechanisms of neuronal cell death in normal cerebral aging as well as in Alzheimer's disease.}, pages = {481--484}, title = {DNA修復機構の欠陥と神経細胞死 : 神経学的異常を伴う色素性乾皮症}, volume = {108}, year = {1994} }