Xeroderma pigmentosum (XP)

Evidence-based neurology checklist on xeroderma pigmentosum (xp): Genetic mutations XPA XPB (ERCC3) XPC XPD (ERCC2) XPE (DDB2) XPF (ERCC4) XPG (ERCC5) XPV (POLH) Movement disorders Other neurological features Dermatological features Ophthalmological features

Genetic mutations

  • XPA
  • XPB (ERCC3)
  • XPC
  • XPD (ERCC2)
  • XPE (DDB2)
  • XPF (ERCC4)
  • XPG (ERCC5)
  • XPV (POLH)

Movement disorders

Other neurological features

Dermatological features

Ophthalmological features

References

  1. Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis 2011; 6:70. 
  2. Garcia-Moreno H, Fassihi H, Sarkany RPE, et al. Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome. Ann Clin Transl Neurol 2017; 5:102-108.
  3. Carré G, Marelli C, Anheim M, et al. Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. J Neurol Sci 2017; 376:198-201.
  4. Adamec D, Xie J, Poisson A, Broussolle E, Thobois S. Xeroderma pigmentosum: a rare cause of chorea. Rev Neurol (Paris) 2011; 167:837-840.
  5. Tsuji Y, Ueda T, Sekiguchi K, et al. Progressive length-dependent polyneuropathy in xeroderma pigmentosum group A. Muscle Nerve 2020 (Online ahead of print).
  6. And 1 more. Subscribe to see the full list

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