Disorders of nucleotide excision repair

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1637-1650

  Rapin, Isabelle ^a  

^a New York State Office of Mental Retardation and Developmental Disabilities   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876869329     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00032-0     Document Type: Chapter

References (43)

1. Bohr V.A., Sander M., Kraemer K.H. Rare diseases provide rare insights into nucleotide excision repair, transcription-coupled repair, TFIIH, aging and cancer. DNA Repair (Amst) 2005, 4:293-302.
2. Boyle J., Ueda T., Oh K.S., et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat 2008, 29:1194-1208.
3. Broughton B.C., Berneburg M., Fawcett H., et al. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 2001, 10:2539-2547.
4. Cleaver J.E., Revet I. Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging. Mech Ageing Dev 2008, 129:492-497.
5. Cockayne E.A. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936, 11:1-8.
6. Compe E., Malerba M., Soler L., et al. Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat Neurosci 2007, 10:1414-1422.
7. De Sanctis C., Cacchione A. L'idiozia xerodermica. Rivista Sperimentale di Frenatria e Medicina Legale delle Alienazioni 1932, 56:268-292.
8. Dollfus H., Porto F., Caussade P., et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol 2003, 48:107-122.
9. Faghri S., Tamura D., Kraemer K.H., et al. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet 2008, 45:609-621.
10. Gandolfi A., Horoupian D., Rapin I., et al. Deafness in Cockaynes's syndrome: morphological, morphometric, and quantitative study of the auditory pathway. Ann Neurol 1984, 15:135-143.
11. Gorgels T.G., van der Pluijm I., Brandt R.M., et al. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Mol Cell Biol 2007, 27:1433-1441.
12. Graham J.M., Anyane-Yeboa K., Raams A., et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 2001, 69:291-300.
13. Griffith E., Walker S., Martin C.A., et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 2008, 40:232-236.
14. Hamel B.C., Raams A., Schuitema-Dijkstra A.R., et al. Xeroderma pigmentosum - Cockayne syndrome complex: a further case. J Med Genet 1996, 33:607-610.
15. Hebb M.O., Gaudet P., Mendez I. Deep brain stimulation to treat hyperkinetic symptoms of Cockayne syndrome. Mov Disord 2006, 21:112-115.
16. Kleijer W.J., Laugel V., Berneburg M., et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 2008, 7:744-750.
17. Kraemer K.H., Lee M.M., Scotto J. DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum. Carcinogenesis 1984, 5:511-514.
18. Kraemer K.H., Lee M.M., Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987, 123:241-250.
19. Kraemer K.H., Sander M., Bohr V.A. New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging. Mech Ageing Dev 2007, 128:229-235.
20. Lahiri S., Davies N. Cockayne's syndrome: case report of a successful pregnancy. BJOG 2003, 110:871-872.
21. Laposa R.R., Huang E.J., Cleaver J.E. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proc Natl Acad Sci U S A 2007, 104:1389-1394.
22. Laugel V., Dalloz C., Tobias E.S., et al. COFS syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet 2008, 45:564-571.
23. Liang C., Kraemer K.H., Morris A., et al. Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol 2005, 52:224-232.
24. Lindenbaum Y., Dickson D., Rosenbaum P., et al. Xeroderma pigmentosum/Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol 2001, 5:225-242.
25. Merideth M.A., Gordon L.B., Clauss S., et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 2008, 358:592-604.
26. Mizuguchi M., Itoh M. A 35-year-old female with growth and developmental retardation, progressive ataxia, dementia and visual loss. Neuropathology 2005, 25:103-106.
27. Nance M.A., Berry S.A. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992, 42:68-84.
28. Neilan E.G., Delgado M.R., Donovan M.A., et al. Response of motor complications in Cockayne syndrome to carbidopa-levodopa. Arch Neurol 2008, 65:1117-1121.
29. Niedernhofer L.J. Nucleotide excision repair deficient mouse models and neurological disease. DNA Repair (Amst) 2008, 7:1180-1189.
30. Niedernhofer L.J., Garinis G.A., Raams A., et al. A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. Nature 2006, 444:1038-1043.
31. Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst) 2008, 7:1155-1167.
32. Oh K.S., Khan S.G., Jaspers N.G., et al. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Hum Mutat 2006, 27:1092-1103.
33. Pasquier L., Laugel V., Lazaro L., et al. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Arch Dis Child 2006, 91:178-182.
34. Quintero R.A., Morales W.J., Gilbert-Barness E., et al. In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy. Fetal Diagn Ther 2000, 15:152-155.
35. Rapin I., Lindenbaum Y., Dickson D.W., et al. Cockayne syndrome and xeroderma pigmentosum: DNA repair disorders with overlaps and paradoxes. Neurology 2000, 55:1442-1449.
36. Rapin I., Weidenheim K.M., Lindenbaum Y., et al. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol 2006, 21:991-1006.
37. Robbins J.H., Brumback R.A., Mendiones M., et al. Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain 1991, 114:1335-1361.
38. Robbins J.H., Kraemer K.H., Merchant S.N., et al. Adult-onset xeroderma pigmentosum neurological disease - observations in an autopsy case. Clin Neuropathol 2002, 21:18-23.
39. Traboulsi E.I., De Becker I., Maumenee I.H. Ocular findings in Cockayne syndrome. Am J Ophthalmol 1992, 114:579-583.
40. Vos A., Gabreels-Festen A., Joosten E., et al. The neuropathy of Cockayne syndrome. Acta Neuropathol 1983, 61:153-156.
41. Wade M.H., Chu E.H. Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome. Mutat Res 1979, 59:49-60.
42. Weidenheim K.M., Dickson D.W., Rapin I. Neuropathology of Cockayne syndrome: evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev 2009, 130:619-636.
43. Yano K. Xeroderma pigmentosa with disturbances of the central nervous system: a histopathological investigation. Folia Psychiatr Neurol Jpn 1950, 4:143-175.