Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair

Eur Neurol. 1993;33(3):188-90. doi: 10.1159/000116932.


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.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • DNA Repair / genetics*
  • Female
  • Follow-Up Studies
  • Humans
  • Middle Aged
  • Nerve Degeneration / genetics*
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics*
  • Neurologic Examination
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • Xeroderma Pigmentosum / diagnosis
  • Xeroderma Pigmentosum / genetics*