Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.
Xeroderma pigmentosum is a genetically heterogeneous disease caused by DNA repair defects resulting in skin cancer and, in some patients, a primary neuronal degeneration which has in all previous reports become symptomatic prior to age 21 years. A 47-year-old xeroderma pigmentosum patient is described who, although neurologically asymptomatic, has sensorineural hearing loss together with clinical signs and electrophysiologic evidence of a developing peripheral neuropathy. This case suggests that defective DNA repair may cause neurodegeneration in adults as well as in children.
Robbins
J H
JH
Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Md. 20892.
Brumback
R A
RA
Moshell
A N
AN
D003241:Consanguinity; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008875:Middle Aged; D009410:Nerve Degeneration / Q000235:genetics*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics*