Xeroderma pigmentosum (XP)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Xeroderma pigmentosum (XP). XPA, XPB (ERCC3), XPC, XPD (ERCC2), XPE (DDB2), XPF (ERCC4), XPG (ERCC5), XPV (POLH). Fully referenced neurology checklist.
Genetic mutations
- XPA
- XPB (ERCC3)
- XPC
- XPD (ERCC2)
- XPE (DDB2)
- XPF (ERCC4)
- XPG (ERCC5)
- XPV (POLH)
Movement disorders
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Other neurological features
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Central nervous system tumours
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Dermatological features
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Ophthalmological features
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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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