A case of xeroderma pigmentosum complementation group F with neurological abnormalities.
We report a 48-year-old Japanese man suffering from xeroderma pigmentosum associated with mental retardation, cerebral atrophy and cerebellar ataxia. Cultured fibroblasts from an unexposed area of skin had reduced DNA repair capacity after UV irradiation, with higher sensitivity to UV than normal cells in colony-forming ability and host cell reactivation using herpes simplex virus. Genetic complementation tests by cell fusion with polyethylene glycol revealed that the patient belonged to group F. He died of bile duct cancer at the age of 50. This is the first report of an XP-F patient with neurological abnormalities.
Moriwaki
S
S
Department of Dermatology, Faculty of Medicine, Kyoto University, Japan.
Nishigori
C
C
Imamura
S
S
Yagi
T
T
Takahashi
C
C
Fujimoto
N
N
Takebe
H
H
D001927:Brain Diseases / Q000150:complications; D002524:Cerebellar Ataxia / Q000150:complications; D004260:DNA Repair; D005816:Genetic Complementation Test; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology*; D012867:Skin / Q000528:radiation effects; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000235:genetics*