Neurological symptoms and natural course of xeroderma pigmentosum

Brain

Volumn 131, Issue 8, 2008, Pages 1979-1989

  Anttinen, Anu ^a   Koulu, Leena ^a   Nikoskelainen, Eeva ^a   Portin, Raija ^a   Kurki, Timo ^a   Erkinjuntti, Matti ^a   Jaspers, Nicolaas G J ^b   Raams, Anja ^b   Green, Michael H L ^c   Lehmann, Alan R ^d   Wing, Jonathan F ^d   Arlett, Colin F ^d   Marttila, Reijo J ^a  

^a TURKU UNIVERSITY HOSPITAL   (Finland)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c UNIVERSITY OF BRIGHTON   (United Kingdom)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

Cancer; Complementation group; Neurodegeneration; Ultraviolet; Xeroderma pigmentosum

Indexed keywords

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; BRAIN ATROPHY; CELLULAR IMMUNITY; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DYSTONIA; EYE INJURY; GENE MUTATION; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; NEUROIMAGING; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RNA SYNTHESIS; SUN EXPOSURE; SUNBURN; SYMPTOM; ULTRAVIOLET B RADIATION; ULTRAVIOLET IRRADIATION; XERODERMA PIGMENTOSUM;

ADULT; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; DNA REPAIR; DNA-BINDING PROTEINS; ENDONUCLEASES; EYE DISEASES; FEMALE; FINLAND; GENETIC COMPLEMENTATION TEST; HEARING DISORDERS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROPSYCHOLOGICAL TESTS; NUCLEAR PROTEINS; PROSPECTIVE STUDIES; SKIN DISEASES; TOMOGRAPHY, X-RAY COMPUTED; TRANSCRIPTION FACTORS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP A PROTEIN;

EID: 49449096533     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn126     Document Type: Article

References (29)

1. Anstey A, Arlett CF, Cole J, Norris PG, Hamblin AS, Limb GA, et al. Long term survival and preservation of natural killer cell activity in a xeroderma pigmentosum patient with spontaneous regression and multiple deposits of malignant melanoma. Brit J Dermatol 1991; 125: 272-8.
2. Arlett CF, Harcourt SA, Cole J, Green MHL, Anstey AV. A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C. Mutat Res 1992; 273: 127-35.
3. Brooks PJ. The case for 8,5́-cyclopurine-2́-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum. Neuroscience 2007; 145: 1407-17.
4. Cooper KD, Oberhelman L, Hamilton TA, Baadsgaard O, Terhune M, Levee G, et al. UV exposure reduces immunization rates and promotes tolerance to epicutaneous antigens in humans: relationship to dose, CD1a-DR+ epidermal macrophage induction, and Langerhans cell depletion. Proc Natl Acad Sci USA 1992; 89: 8497-501.
5. De Sanctis C, Cacchione A. L'idiozia xerodermica. Riv Sper Fren 1932; 56: 269-92.
6. Di Giovanna JJ, Patronas N, Katz D, Abangan D, Kraemer KH. Xeroderma pigmentosum: spinal cord astrocytoma with 9 year survival after radiation and isotretinoin therapy. J Cutan Med Surg 1998; 2: 153-8.
7. Dollfus H, Porto F, Caussade P, Speeg-Schatz C, Sahel J, Grosshans E, et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol 2003; 48: 107-22.
8. Goyal JL, Rao VA, Srinivasan R, Agrawal K. Oculocutaneous manifestations in xeroderma pigmentosa. Brit J Ophthalmol 1994; 78: 295-7.
9. Hebra F, Kaposi M. On diseases of the skin including exanthemata. New Sydenham Soc 1874; 61: 252-8.
10. Jaspers NGJ, Raams A, Kelner MJ, Ng JM, Yamashita YM, Takeda S, et al. Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways. DNA Repair (Amst) 2002; 1: 1027-38.
11. Kaposi M. Xeroderma pigmentosum. Med Jahrb 1882; 619-33.
12. Kraemer KH, Lee M-M, Andrews AD, Lambert WC. The role of sunlight and DNA repair in melanoma and non-melanoma skin cancer: the xeroderma pigmentosum paradigm. Arch Dermatol 1994; 130: 1018-21.
13. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123: 241-50.
14. Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1985; 3: 33-69.
15. Kuraoka I, Bender C, Romieu A, Cadet J, Wood RD, Lindahl T. Removal of oxygen free-radical-induced 5́,8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells. Proc Natl Acad Sci USA 2000; 97: 3832-7.
16. Lehmann AR, Stevens S. A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cells. Mutat Res 1980; 69: 177-90.
17. Lehmann AR, Thompson AF, Harcourt SA, Stefanini M, Norris PG. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV-irradiation. J Med Genet 1993; 30: 679-82.
18. Ljungman M, Zhang FF. Blockage of RNA polymerase as a possible trigger for u.v. light-induced apoptosis. Oncogene 1996; 13: 823-31.
19. Maeda T, Sato K, Minami H, Taguchi H, Yoshikawa K. Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites. Clin Genet 1995; 48: 225-31.
20. Mimaki T, Itoh N, Abe J, Tagawa T, Sato K, Yabuuchi H, et al. Neurological manifestations in xeroderma pigmentosum. Ann Neurol 1986; 20: 70-5.
21. Nishigori C, Zghal M, Yagi T, Imamura S, Komoun MR, Takebe H. High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. Am J Hum Genet 1993; 53: 1001-6.
22. Petit-Frère C, Capulas E, Lowe JE, Koulu L, Marttila RJ, Jaspers NGJ, et al. Ultraviolet-B-induced apoptosis and cytokine release in xeroderma pigmentosum keratinocytes. J Invest Dermatol 2000; 115: 687-93.
23. Rapin I, Lindenbaum Y, Dickson D, Kraemer KH, Robbins JH. Cockayne syndrome and xeroderma pigmentosus. DNA repair disorders with overlaps and paradoxes. Neurology 2000; 55: 1442-9.
24. Roytta M, Anttinen A. Xeroderma-pigmentosum with neurological abnormalities - a clinical and neuropathological study. Acta Neurol Scand 1986; 73: 191-9.
25. Sidwell RU, Sandison A, Wing J, Fawcett HD, Seet JE, Fisher C, et al. A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma. Br J Dermatol 2006; 155: 81-8.
26. Thielmann HW, Popanda O, Edler L, Jung EG. Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany. Cancer Res 1991; 51: 3456-70.
27. Vermeulen W, Stefanini M, Giliani S, Hoeijmakers JHJ, Bootsma D. Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res 1991; 255: 201-8.
28. Wattendorf DJ, Kraemer KH. Xeroderma pigmentosum. GeneReviews, Available at: www.genetests.org (14 May 2007, date last accessed).
29. Wechsler D. Manual for the Wechsler Adult Intelligence Scale. New York: Psychological Corporation, 1955.