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Cockayne Syndrome

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Magnetic Resonance of Myelination and Myelin Disorders

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References and Further Reading

  • Balajee AS, De Santis LP, Brosh Jr RM, Selzer R, Bohr VA. Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis. Oncogene 2000; 19: 477–489

    Article  CAS  PubMed  Google Scholar 

  • Berneberg M, Lowe JE, Nardo T, Araújo S, Fousteri MI, Green MHL, Krutmann J, Wood RD, Stefanini M, Lehmann AR. UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome. EMBO J 2000; 19: 1157–1166

    Google Scholar 

  • Berneburg M, Lehmann AR. Xeroderma pigmentosum and related disorders: defect in DNA repair and transcription. Adv Genet 2000; 43: 71–102

    Google Scholar 

  • Bohr VA. Human premature aging syndrome and genomic instability. Mech Ageing Dev 2002; 123: 987–993

    Article  CAS  PubMed  Google Scholar 

  • Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology 1989; 31: 276–277

    Article  CAS  PubMed  Google Scholar 

  • Castillo M, Thomas D, Mukherji SK. Facies to remember. Int J Neuroradiol 1997; 3: 35–41

    Google Scholar 

  • Cirillo Silengo M, Franceschini P, Bianco R, Biagioli M, Pastorin L, Vista N, Baldassar A, Benso L. Distinctive skeletal dysplasia in Cockayne syndrome. Pediatr Radiol 1986; 16: 264–266

    CAS  PubMed  Google Scholar 

  • Citterio E, Van der Boom V, Schnitzler G, Kanaar R, Bonte E, Kingston RE, Hoeijmakers JHJ, Vermeulen W. ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. Mol Cell Biol 2000; 20: 7643–7653

    Article  CAS  PubMed  Google Scholar 

  • Colabucci F, Rossodivita A, Parigi A, Colavita N. A clinical and radiological study of two brothers affected by Cockayne syndrome type II. Rays 1987; 12: 57–63

    CAS  PubMed  Google Scholar 

  • Dabbagh O, Swaiman KF. Cockayne syndrome: MRI correlates of hypomyelination. Pediatr Neurol 1988; 4: 113–116

    Article  CAS  PubMed  Google Scholar 

  • Del Bigio MR, Greenberg CR, Rorke LB, Schnur R, McDonald-McGinn DM, Zackai EH. Neuropathological findings in eight children wit cerebro-oculo-facio-skeletal (COFS) syndrome. J Neuropathol Exp Neurol 1997; 56: 1147–1157

    PubMed  Google Scholar 

  • Demaerel P, Wilms G, Verdru P, Carton H, Baert AL. MRI in the diagnosis of Cockayne’s syndrome. One case. J Neuroradiol 1990; 17: 157–160

    CAS  PubMed  Google Scholar 

  • Demaerel P, Kendall BE, Kingsley D. Cranial CT and MRI in diseases with DNA repair defects. Neuroradiology 1992; 34: 117–121

    CAS  PubMed  Google Scholar 

  • Friedberg EC. Cockayne syndrome — a primary defect in DNA repair, transcription, both or neither? Bioessays 1996; 18: 731–738

    Article  CAS  PubMed  Google Scholar 

  • Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NGJ. Cerebo-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

    CAS  PubMed  Google Scholar 

  • Grunnet ML, Zimmerman AW, Lewis RA. Ultrastructure and electrodiagnosis of peripheral neuropathy in Cockayne’s syndrome. Neurology 1983; 33: 1606–1609

    CAS  PubMed  Google Scholar 

  • Hanawalt PC. The basis for Cockayne syndrome. Nature 2000; 405: 415–416

    Article  CAS  PubMed  Google Scholar 

  • Harbord MG, Finn JP, Hall-Craggs MA, Brett EM, Baraitser M. Early onset leukodystrophy with distict facial features in 2 siblings. Neuropediatrics 1989; 20: 154–157

    CAS  PubMed  Google Scholar 

  • Hayashi M, Hayakawa K, Suzuki F, Sugita K, Satoh J, Morimatsu Y. A neuropathological study of early onset Cockayne syndrome with chromosomal anomaly 47XXX. Brain Dev 1992; 14: 63–67

    CAS  PubMed  Google Scholar 

  • Hayashi M, Itoh M, Araki S, Kumada S, Shioda K, Tamagawa K, Mizutaini T, Morimatsu Y, Minagawa M, Oda M. Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders. J Neuropathol Exp Neurol 2001; 60: 350–356

    CAS  PubMed  Google Scholar 

  • Houston CS, Zaleski WA, Rozdilsky B. Identical male twins and brother with Cockayne syndrome. Am J Med Genet 1982; 13: 211–223

    Article  CAS  PubMed  Google Scholar 

  • Itoh M, Hayashi M, Shioda K, Minagawa M, Isa F, Tamagawaa K, Morimatsu Y, Oda M. Neurodegeneration in hereditary nucleotide repair disorders. Brain Dev 1999; 21: 326–333

    Article  CAS  PubMed  Google Scholar 

  • Kohji T, Hayashi M, Shioda K, Minagawa M, Morimatsu Y, Tamagawa K, Oda M. Cerebellar neurodegeneration in human hereditary DNA repair disorders. Neurosci Lett 1998; 243: 133–136

    Article  CAS  PubMed  Google Scholar 

  • Lee S-K, Yu S-L, Prakash L, Prakash S. Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription: implications for Cockayne syndrome. Cell 2002; 109: 823–834

    Article  CAS  PubMed  Google Scholar 

  • Leech RW, Brumback RA, Miller RH, Otsuka F, Tarone RE, Robbins JH. Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings. J Neuropathol Exp Neurol 1985; 44: 507–519

    CAS  PubMed  Google Scholar 

  • 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: 679–682

    CAS  PubMed  Google Scholar 

  • Licht CL, Stevsner T, Bohr VA. Cockayne syndrome group B cellular and biochemical functions. Am J Hum Genet 2003; 73: 1217–1239

    Article  CAS  PubMed  Google Scholar 

  • Lindahl T, Karran P, Wood RD. DNA excision repair pathways. Curr Opin Genet Dev 1997; 7: 159–169

    Article  Google Scholar 

  • Lindenbaum Y, Dickson DW, Rosenbaum PS, Kraemer KH, Robbins JH, Rapin I. Xeroderma pigmentosum / Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Pediatr Neurol 2001; 5: 225–242

    CAS  Google Scholar 

  • Lowry RB. Early onset of Cockayne syndrome. Am J Med Genet 1982; 13: 209–210

    Article  CAS  PubMed  Google Scholar 

  • Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, Van Gool AJ, Troelstra C, Stefanini M, Lehmann AR. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998; 62: 77–85

    Article  CAS  PubMed  Google Scholar 

  • Meira L, Graham Jr JM, Greenberg CR, Busch DB, Doughty ATB, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC. Manitona aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet 2000; 66: 1221–1228

    Article  CAS  PubMed  Google Scholar 

  • Moyer DB, Marquis P, Shertzer ME, Burton BK. Cockayne syndrome with early onset of manifestations. Am J Med Genet 1982; 13: 225–230

    Article  CAS  PubMed  Google Scholar 

  • Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992; 42: 68–84

    Article  CAS  PubMed  Google Scholar 

  • Nishio H, Kodama S, Matsuo T, Ichihashi M, Ito H, Fujiwara Y. Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. J Inherit Metab Dis 1988; 11: 88–102

    Article  CAS  PubMed  Google Scholar 

  • Norman RM, Tingey AH. Syndrome of micrencephaly, striocerebellar calcifications, and leucodystrophy. J Neurol Neurosurg Psychiatry 1966; 29: 157–163

    Google Scholar 

  • Ohnishi A, Mitsudome A, Murai Y. Primary segmental demyelination in the sural nerve in Cockayne’s syndrome. Muscle Nerve 1987; 10: 163–167

    Article  CAS  PubMed  Google Scholar 

  • Özdirim E, Topçu M, Özön A, Cila A. Cockayne syndrome: review of 25 cases. Pediatr Neurol 1996; 15: 312–316

    Article  PubMed  Google Scholar 

  • Patton MA, Giannelli F, Francis AJ, Baraiser M, Harding B, Williams AJ. Early onset Cockayne’s syndrome: case reports with neuropathological and fibroblast studies. J Med Genet 1989; 26: 154–159

    CAS  PubMed  Google Scholar 

  • Pena SDJ, Shokeir MHK. Autosomal recessive cerbro-oculo-facio-skeletal (COFS) syndrome. Clin Genet 1974; 5: 285–293

    CAS  PubMed  Google Scholar 

  • Pena SDJ, Evans J, Hunter AGW. COFS syndrome revisited. Birth Defects 1978; XIV: 205–213

    Google Scholar 

  • Rapin I. Lindenbaum Y, Dickson DW, Kraemer KH, Robbins JH. Cockayne syndrome and xeroderma pigmentosum. DNA repair disorders with overlaps and paradoxes. Neurology 2000; 55: 1442–1449

    CAS  PubMed  Google Scholar 

  • Roy S, Srivastava RN, Gupta PC, Meyekar G. Ultrastructure of pheripheral nerve in Cockayne’s syndrome. Acta Neuropathol (Berl) 1973; 24: 345–349

    Article  CAS  PubMed  Google Scholar 

  • Sakai T, Kikuchi F, Takashima S, Matsuda H, Watanabene N. Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome. Brain Dev 1997; 19: 58–62

    Article  CAS  PubMed  Google Scholar 

  • Sasaki K, Tachi N, Shinoda M, Satoh N, Minami R, Ohnishi A. Demyelinating peripheral neuropathy in Cockayne syndrome: a histopathologic and morphometric study. Brain Dev 1992; 14: 114–117

    CAS  PubMed  Google Scholar 

  • Sato H, Saito T, Kurosawa K, Ootaka T, Furuyama T, Yoshinaga K. Renal lesions in Cockayne’s syndrome. Clin Nephrol 1988; 29: 206–209

    CAS  PubMed  Google Scholar 

  • Savary JB, Vasseur F, Deminatti MM. Routine autorediographic analysis of DNA excision-repair. Report of prenatal and postnatal diagnosis in eleven families. Ann Genet 1991; 2: 76–81

    Google Scholar 

  • Smits MG, Gabreëls FJM, Renier WO, Joosten EMG, Gabreels-Festen AAWM, ter Laak HJ, Pinckers AJL, Hombergen GCJ, Notermans SLH, Thijssen HOM. Peripheral and central myelinopathy in Cockayne’s syndrome. Neuropediatrics 1982; 13: 161–167

    CAS  PubMed  Google Scholar 

  • Soffer D, Grotsky HW, Rapin I, Suzuki K. Cockayne syndrome: unusual neuropathological findings and review of the literature. Ann Neurol 1979; 6: 340–348

    Article  CAS  PubMed  Google Scholar 

  • Sugita K, Takanashi J, Ishii M, Niimi H. Comparison of MRI white matter changes with neuropsychologic impairment in Cockayne syndrome. Pediatr Neurol 1992; 8: 295–298

    Article  CAS  PubMed  Google Scholar 

  • Takada K, Becker LE. Cockayne’s syndrome: report of two autopsy cases associated with neurofibrillary tangles. Clin Neuropathol 1986; 5: 64–68

    CAS  PubMed  Google Scholar 

  • Talwar D, Smith SA. Camfak syndrome: a demyelinating inherited disease similar to Cockayne syndrome. Am J Med Genet 1989; 34: 194–198

    Article  CAS  PubMed  Google Scholar 

  • Traboulsi EI, de Becker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol 1992; 114: 579–583

    CAS  PubMed  Google Scholar 

  • Van Gool AJ, van der Horst GTJ, Citterioo E, Hoeijmakers JHJ. Cockayne syndrome: defective repair of transcription? EMBO J 1997; 16: 4155–4162

    PubMed  Google Scholar 

  • Van Hoffen A, Kalle WHJ, De Jong-Versteeg A, Lehmann AR, Van Zeeland AA, Mullenders LHF. Cells from XP-D and XP-D-CS patients exhibit equally inefficient of UV-repair damage in transcribed genes but different capacity to recover UV-inhibited transcription. Nucl Acids Res 1999; 27: 2898–2904

    PubMed  Google Scholar 

  • Vos A, Gabreëls-Festen A, Joosten E, Gabreëls F, Renier W, Mullaart R. The neuropathy of Cockayne syndrome. Acta Neuropathol (Berl) 1983; 61: 153–156

    Article  CAS  PubMed  Google Scholar 

  • Weliky-Conaway J, Conaway RC. Transcription elongation and human disease. Annu Rev Biochem 1999; 68: 301–319

    Google Scholar 

  • Winter RM, Donna D, d’A Crawfurd M. Syndromes of microcephaly, microphtalmia, cataracts, and joint contractures. J Med Genet 1981; 18: 29–133

    Google Scholar 

  • Zafeiriou DI, Thorel F, Andreou A, Kleijer WJ, Raams A, Garritsen VH, Gombakis N, Jaspers NGJ, Clarkson SG. Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. Pediatr Res 2001; 49: 407–412

    CAS  PubMed  Google Scholar 

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© 2005 Springer-Verlag Berlin Heidelberg

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(2005). Cockayne Syndrome. In: Magnetic Resonance of Myelination and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27660-2_32

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  • DOI: https://doi.org/10.1007/3-540-27660-2_32

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-22286-6

  • Online ISBN: 978-3-540-27660-9

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