Cockayne syndrome and xeroderma pigmentosum: DNA repair disorders with overlaps and paradoxes

Neurology

Volumn 55, Issue 10, 2000, Pages 1442-1449

  Rapin, Isabelle ^a,b   Lindenbaum, Y ^a,c   Dickson, D W ^a,b,d   Kraemer, K H ^e   Robbins, J H ^e  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

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

^c THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d MAYO CLINIC   (United States)

^e NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; COCKAYNE SYNDROME; DISEASE ASSOCIATION; DNA SYNTHESIS; GENETIC DISORDER; HUMAN; NEUROPATHOLOGY; PRIORITY JOURNAL; REVIEW; XERODERMA PIGMENTOSUM;

EID: 0034727603     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.10.1442     Document Type: Review

References (49)

1. Dwarfism with retinal atrophy and deafness
2. A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
3. Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair
4. Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration
5. Cockayne syndrome: Review of 140 cases
6. Cockayne syndrome: Unusual neuropathological findings and review of the literature
7. Genetic analysis of twenty-two patients with Cockayne syndrome
8. Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene
9. Pathology of prenatal encephalopathies
10. Seckel's bird-headed dwarfism
11. Deafness in Cockayne's syndrome: Morphological, morphometric, and quantitative study of the auditory pathway
12. A syndrome resembling progeria: A review of two cases
13. Normal pressure hydrocephalus: Recognition and relationship to neurological abnormalities in Cockayne's syndrome
14. Cerebellar neurodegeneration in human hereditary DNA repair disorders
15. Cockayne syndrome: Clinicopathologic and tissue culture studies of affected siblings
16. Lymphoblastoid lines and skin fibroblasts from patients with tuberous sclerosis are abnormally sensitive to ionizing radiation and to radiomimetic chemicals
17. Human neurotropic JC virus early protein deregulates glial cell cycle pathway and impairs cell differentiation
18. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
19. Heritable diseases with increased sensitivity to cellular injury
20. Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome
21. Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome
22. Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
23. Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form
24. Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: Evidence for a neurodegeneration in later life caused by defective DNA repair
25. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
26. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene
27. Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy
28. Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of skin tumors despite severe deficiency of DNA excision repair
29. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3
30. Photosensitization and DNA repair. Possible nosologic relationship between xeroderma pigmentosum and Cockayne's syndrome
31. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome
32. Xeroderma pigmentosum group H falls into complementation group D
33. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome
34. Xeroderma pigmentosum-Cockayne syndrome complex. A further case
35. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: Implications for a second XPG function
36. Xeroderma pigmentosum complementation group G - Report of two cases
37. Base excision repair of oxidative DNA damage activated by XPG protein
38. Defective transcription-coupled repair of oxidative damage in Cockayne syndrome patients from XP group G
39. Transcription-coupled repair of 8-oxoguanine: Requirements for XPG, TFIIH, and CSB and implications for Cockayne syndrome
40. Fluorescent light-induced chromatic breaks distinguish Alzheimer disease cells from normal cells in tissue culture
41. DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions
42. In vitro repair of oxidative DNA damage by human nucleotide excision repair systems: Possible explanation for neurodegeneration in xeroderma pigmentosum patients
43. Removal of oxygen free-radical-induced 8,5'-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells
44. The oxidative DNA lesion 8,5-cyclo-2'-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells
45. DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells
46. Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree
47. Recent advances in DNA repair: A report of a meeting of the British Photobiology Society and the DNA Repair Network. London, 14 and 15 December 1990
48. The bases for Cockayne syndrome