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Brain Advance Access published online on June 21, 2008
Brain, doi:10.1093/brain/awn126
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© The Author (2008). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Neurological symptoms and natural course of xeroderma pigmentosum

Anu Anttinen1, Leena Koulu2, Eeva Nikoskelainen3, Raija Portin1,{dagger}, Timo Kurki4, Matti Erkinjuntti5, Nicolaas G. J. Jaspers6, Anja Raams6, Michael H. L. Green7, Alan R. Lehmann8, Jonathan F. Wing8, Colin F. Arlett8 and Reijo J. Marttila1

1Department of Neurology, 2Department of Dermatology, 3Department of Ophthalmology, 4Department of Radiology, 5Department of Clinical Neurophysiology, Turku University Central Hospital, Turku, Finland, 6Department of Genetics, Medical Genetic Cluster, Erasmus University, Rotterdam, The Netherlands, 7School of Pharmacy and Biomolecular Sciences, University of Brighton, Cockcroft Building, Lewes Road, Brighton BN2 4G and 8Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, BN1 9RQ, UK

Correspondence to: Anu Anttinen, MD, Department of Neurology, Turku University Central Hospital, PB 52, 20521 Turku, Finland E-mail: anu.anttinen{at}tyks.fi

We have prospectively followed 16 Finnish xeroderma pigmentosum (XP) patients for up to 23 years. Seven patients were assigned by complementation analysis to the group XP-A, two patients to the XP-C group and one patient to the XP-G group. Six of the seven XP-A patients had the identical mutation (Arg228Ter) and the seventh patient had a different mutation (G283A). Further patients were assigned to complementation groups on the basis of their consanguinity to an XP patient with a known complementation group. The first sign of the disease in all the cases was severe sunburn with minimal sun exposure in early infancy. However, at the time the diagnosis was made in only two cases. The XP-A patients developed neurological and cognitive dysfunction in childhood. The neurological disease advanced in an orderly fashion through its successive stages, finally affecting the whole nervous system and leading to death before the age of 40 years. Dermatological and ocular damage of the XP-A patients tended to be limited. The two XP-C patients were neurologically and cognitively intact despite mild brain atrophy as seen by neuroimaging. The XP-G patients had sensorineural hearing loss, laryngeal dystonia and peripheral neuropathy. The XP-C patients had severe skin and ocular malignancies that first presented at pre-school age. They also showed immunosuppression in cell-mediated immunity. Neurological disease appears to be associated with the complementation group and the failure of fibroblasts to recover RNA synthesis following UV irradiation, but not necessarily to the severity of the dermatological symptoms, the hypersensitivity of fibroblasts to UVB killing or the susceptibility of keratinocytes to UVB-induced apoptosis.

Key Words: xeroderma pigmentosum; neurodegeneration; ultraviolet; cancer; complementation group

Abbreviations: CMM, cutaneous malignant melanoma; DPCP, diphenylcyclopropenone; ENMG, electroneuromyography; NER, nucleotide excision repair; XP, xeroderma pigmentosum

.

Received November 25, 2007. Revised March 30, 2008. Accepted May 20, 2008.

{dagger}Deceased November, 2007.


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