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 Central nervous system tumours 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
Central nervous system tumours
Dermatological features
Ophthalmological features
References
- Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis 2011; 6:70.
- 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.
- 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.
- Adamec D, Xie J, Poisson A, Broussolle E, Thobois S. Xeroderma pigmentosum: a rare cause of chorea. Rev Neurol (Paris) 2011; 167:837-840.
- Tsuji Y, Ueda T, Sekiguchi K, et al. Progressive length-dependent polyneuropathy in xeroderma pigmentosum group A. Muscle Nerve 2020 (Online ahead of print).
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