Neurological symptoms and natural course of xeroderma pigmentosum
Open accessAbstract
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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
XPC is one of the key DNA damage-recognition proteins in GGR, and mutations in XPC can increase cancer risk, although neurodegeneration is rarely seen in this group of patients.
“XPC is one of the key DNA damage-recognition proteins in the GGR and mutations in this gene can increase cancer risk, although neurodegeneration is rarely seen on this group of patients [5,243].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [243]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
The American Journal of Human Genetics
S., J. (1950) · Population · doi:10.2307/1523704 · Cited by 5,124 · see citing works
Manual for the Wechsler Adult Intelligence Scale.
Wechsler, D. (1955) · Psychological Corp. eBooks · Cited by 4,941 · see citing works
Kraemer, K. H. (1987) · Archives of Dermatology · doi:10.1001/archderm.123.2.241 · Cited by 1,205 · see citing works
Kraemer, K. H. (1994) · Archives of Dermatology · doi:10.1001/archderm.130.8.1018 · Cited by 571 · see citing works
Cooper, K. D., Oberhelman, L., HAMILTON, T. A., Baadsgaard, O., Terhune, M. H., LeVee, G. J., Anderson, T. J., & Koren, H. S. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.18.8497 · Cited by 368 · see citing works
Kuraoka, I., Bender, C., Romieu, A., Cadet, J., Wood, R. D., & Lindahl, T. L. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.070471597 · Cited by 346 · see citing works
Blockage of RNA polymerase as a possible trigger for u.v. light-induced apoptosis.
Ljungman, M. E., & Zhang, F. (1996) · PubMed · Cited by 330 · see citing works
Cockayne syndrome and xeroderma pigmentosum
Rapin, I., Lindenbaum, Y., Dickson, D. W., Kraemer, K. H., & Robbins, J. H. (2000) · Neurology · doi:10.1212/wnl.55.10.1442 · Cited by 255 · see citing works
Jaspers, N. G. J., Raams, A., Kelner, M. J., Ng, J. M. Y., Yamashita, Y. M., Takeda, S., McMorris, T. C., & Hoeijmakers, J. H. J. (2002) · DNA repair · doi:10.1016/s1568-7864(02)00166-0 · Cited by 165 · see citing works
Self-citationKraemer, K. H., & Slor, H. (1985) · Clinics in Dermatology · doi:10.1016/0738-081x(85)90096-3 · Cited by 134 · see citing works
Oculocutaneous manifestations in xeroderma pigmentosa.
Goyal, J. L., Rao, V. A., Srinivasan, R., et al. (1994) · British Journal of Ophthalmology · doi:10.1136/bjo.78.4.295 · Cited by 122 · see citing works
Brooks, P. J. (2006) · Neuroscience · doi:10.1016/j.neuroscience.2006.10.025 · Cited by 121 · see citing works
Ocular Manifestations in the Inherited DNA Repair Disorders
Dollfus, H., Porto, F. B. O., Caussade, P., Speeg‐Schatz, C., Sahel, J., Grosshans, E., Flament, J., & Sarasin, A. R. (2003) · Survey of Ophthalmology · doi:10.1016/s0039-6257(02)00400-9 · Cited by 102 · see citing works
Lehmann, A. R., Thompson, A., Harcourt, S. A., Stefanini, M., & Norris, P. G. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.8.679 · Cited by 100 · see citing works
Self-citationXeroderma pigmentosum complementation group H falls into complementation group D
Vermeulen, W., Stefanini, M., Giliani, S. C., Hoeijmakers, J. H. J., & Bootsma, D. (1991) · Mutation Research/DNA Repair · doi:10.1016/0921-8777(91)90054-s · Cited by 78 · see citing works
Neurological manifestations in xeroderma pigmentosum
Mimaki, T., Itoh, N., Abe, J., Tagawa, T., Sato, K., Yabuuchi, H., & Takebe, H. (1986) · Annals of Neurology · doi:10.1002/ana.410200112 · Cited by 73 · see citing works
Lehmann, A. R., & Stevens, S. (1980) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/0027-5107(80)90187-6 · Cited by 70 · see citing works
Self-citationClinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany.
Thielmann, H. W., Popanda, O., Edler, L., & Jung, E. G. (1991) · PubMed · Cited by 66 · see citing works
Nishigori, C., Zghal, M., Yagi, T., Imamura, S., Komoun, M. R., & Takebe, H. (1993) · Europe PMC (PubMed Central) · Cited by 56 · see citing works
DiGiovanna, J. J., Patronas, N. J., Katz, D., Abangan, D. L., & Kraemer, K. H. (1998) · Journal of Cutaneous Medicine and Surgery · doi:10.1177/120347549800200308 · Cited by 47 · see citing works
Sidwell, R. U., Sandison, A., Wing, J., Fawcett, H. D., Seet, J., Fisher, C., Nardò, T., Stefanini, M., Lehmann, A. R., & Cream, J. J. (2006) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2006.07272.x · Cited by 42 · see citing works
Self-citationAnstey, A. V., Arlett, C. F., Cole, J., Norris, P. G., Hamblin, A. S., Limb, G. A., Lehmann, A. R., Wilkinson, J. D., & TURNER, M. (1991) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1991.tb14754.x · Cited by 36 · see citing works
Self-citationUltraviolet-B-Induced Apoptosis and Cytokine Release in Xeroderma Pigmentosum Keratinocytes
Capulas, E., Lowe, J. E., Green, M. H. L., Arlett, C. F., Petit-Frère, C., Clingen, P. H., Koulu, L. M., Marttila, R. J., & Jaspers, N. G. J. (2000) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2000.00093.x · Cited by 32 · see citing works
Self-citationXeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study
Röyttä, M., & Anttinen, A. (2009) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.1986.tb03262.x · Cited by 31 · see citing works
Self-citationArlett, C. F., Harcourt, S. A., Cole, J., Green, M. H. L., & Anstey, A. V. (1992) · Mutation Research/DNA Repair · doi:10.1016/0921-8777(92)90074-d · Cited by 25 · see citing works
Self-citationMaeda, T., Sato, K., Minami, H., Taguchi, H., & Yoshikawa, K. (1995) · Clinical Genetics · doi:10.1111/j.1399-0004.1995.tb04094.x · Cited by 23 · see citing works
Eiji, Y., Hirono, H., Takeuchi, M., et al. (1992) · Mutation Research/Genetic Toxicology · doi:10.1016/0165-1218(92)90222-l · Cited by 21 · see citing works
Patients with delusions in a community psychiatric service: A follow‐up study
Jørgensen, P., & Munk‐Jørgensen, P. (1986) · Acta Psychiatrica Scandinavica · doi:10.1111/j.1600-0447.1986.tb10586.x · Cited by 12 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- De Sanctis C, Cacchione A. L'idiozia xerodermica. Riv Sper Fren 1932; 56: 269-92.
- Hebra F, Kaposi M. On diseases of the skin including exanthemata. New Sydenham Soc 1874; 61: 252-8.
Cited by
Sorted by citations
DNA repair mechanisms in dividing and non-dividing cells
Iyama, T., & Wilson, D. M. (2013) · DNA Repair · doi:10.1016/j.dnarep.2013.04.015 · Cited by 697 · see citing works
DNA damage and its links to neurodegeneration
Madabhushi, R., Pan, L., & Tsai, L.-H. (2014) · Neuron · doi:10.1016/j.neuron.2014.06.034 · Cited by 654 · see citing works
Sunlight damage to cellular DNA: focus on oxidatively generated lesions
Schuch, A. P., Moreno, N. C., Schuch, N. J., Menck, C. F. M., & Garcia, C. C. M. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.01.029 · Cited by 436 · see citing works
Animal models of aging research: implications for human aging and age-related diseases
Mitchell, S. J., Scheibye-Knudsen, M., Longo, D. L., & de Cabo, R. (2015) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-022114-110829 · Cited by 328 · see citing works
DNA repair deficiency and neurological disease
McKinnon, P. J. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2559 · Cited by 323 · see citing works
Maintaining genome stability in the nervous system
McKinnon, P. J. (2013) · Nature Neuroscience · doi:10.1038/nn.3537 · Cited by 229 · see citing works
Protective effects and mechanisms of sirtuins in the nervous system
Zhang, F., Wang, S., Gan, L., Vosler, P. S., Gao, Y., Zigmond, M. J., & Chen, J. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.09.001 · Cited by 211 · see citing works
Black, J. O. (2016) · Head and Neck Pathology · doi:10.1007/s12105-016-0707-8 · Cited by 166 · see citing works
XPA: A key scaffold for human nucleotide excision repair
Sugitani, N., Sivley, R. M., Perry, K. E., Capra, J. A., & Chazin, W. J. (2016) · DNA Repair · doi:10.1016/j.dnarep.2016.05.018 · Cited by 116 · see citing works
DNA damage in the oligodendrocyte lineage and its role in brain aging
Tse, K.-H., & Herrup, K. (2017) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2016.05.006 · Cited by 108 · see citing works
Ramkumar, H. L., Brooks, B. P., Cao, X., Tamura, D., DiGiovanna, J. J., Kraemer, K. H., & Chan, C.-C. (2011) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2011.03.001 · Cited by 72 · see citing works
Totonchy, M. B., Tamura, D., Pantell, M. S., Zalewski, C., Bradford, P. T., Merchant, S. N., Nadol, J., Khan, S. G., Schiffmann, R., Pierson, T. M., et al. (2013) · Brain · doi:10.1093/brain/aws317 · Cited by 51 · see citing works
Sunlight, Vitamin D, and Xeroderma Pigmentosum
Martens, M. C., Emmert, S., & Boeckmann, L. (2020) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-030-46227-7_16 · Cited by 24 · see citing works
- Authors
- Anttinen, A., Koulu, L., Nikoskelainen, E., Portin, R., Kurki, T., Erkinjuntti, M., Jaspers, N. G. J., Raams, A., Green, M. H. L., Lehmann, A. R., Wing, J. F., Arlett, C. F., & Marttila, R. J.
- Affiliations
- Turku University Hospital (FI)
- University of Sussex (GB)
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-01-10
- Volume
- 131
- Issue
- 8
- Pages
- 1979-1989
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2100634501
- Cited by
- 132
- References
- 28
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 4 · 2023: 2 · 2022: 11 · 2021: 10 · 2020: 12 · 2019: 8 · 2018: 12 · 2017: 10 · 2016: 7 · 2015: 8 · 2014: 6 · 2013: 13 · 2012: 4
- FWCI
- 2.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Sussex Research Online (University of Sussex) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- xeroderma pigmentosum, neurological symptoms, complementation groups, cognitive impairment, sensorineural hearing loss, laryngeal dystonia, peripheral neuropathy, immunosuppression, cell-mediated immunity, keratinocyte apoptosis, natural history (disease)
- MeSH terms
- DNA Excision Repair Protein ERCC-5, 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
