Skip to main content
SpringerLink
Log in
Book cover

DNA Repair Disorders pp 115–132Cite as

Cockayne Syndrome: Clinical Aspects

  • Chapter
  • First Online:

  • 587 Accesses

Abstract

Cockayne syndrome (CS) is a rare autosomal recessive degenerative disorder caused by deficient nucleotide excision repair. It is characterized by a distinctive facial appearance (sunken eyes and cheeks); postnatal poor growth; and progressive multisystem dysfunction, including of the central and peripheral nervous systems. Many clinical assessments are required to support a diagnosis of CS, and comprehensive investigations of the needs of patients and their families are also necessary. Although renal failure is not included in the diagnostic criteria for CS, it is considered to be an important symptom that can affect survival. Genetic heterogeneity in the renal pathology of CS might also exist. Clinicians should coordinate with various specialists to ensure appropriate managements. This approach will ensure that pediatric CS patients and their families will be able to spend meaningful time together while the patient retains a good quality of life.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD   139.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936;11:1–8.

    Article  CAS  Google Scholar 

  2. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1946;21:52–4.

    Article  Google Scholar 

  3. Sugarman GI, Landing BH, Reed WB. Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. Clin Pediatr. 1977;16:225–32.

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  5. Natale V. A comprehensive description of the severity groups in Cockayne syndrome. Am J Med Genet A. 2011;155A:1081–95.

    Article  Google Scholar 

  6. Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, Hoshino H, Sugita K, Hayashi M. Nationwide survey of Cockayne syndrome in Japan: incidence, clinical course and prognosis. Pediatr Int. 2015;57:339–47.

    Article  Google Scholar 

  7. Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ. The Cockayne syndrome natural history (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med. 2016;18:483–93.

    Article  Google Scholar 

  8. Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev. 2013;134:161–70.

    Article  CAS  Google Scholar 

  9. Rapin I, Weidenheim K, Lindenbaum Y, Rosenbaum P, Merchant SN, Krishna S, Dickson DW. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol. 2006;21:991–1006.

    Article  Google Scholar 

  10. Hayashi M, Miwa-Saito N, Tanuma N, Kubota M. Brain vascular changes in Cockayne syndrome. Neuropathology. 2012;32:113–7.

    Article  Google Scholar 

  11. Scheibye-Knudsen M, Ramamoorthy M, Sykora P, Maynard S, Lin PC, Minor RK, Wilson DM 3rd, Cooper M, Spencer R, de Cabo R, Croteau DL, Bohr VA. Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. J Exp Med. 2012;209:855–69.

    Article  CAS  Google Scholar 

  12. Kleijer WJ, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008;7:744–50.

    Article  CAS  Google Scholar 

  13. Morris DP, Alian W, Maessen H, Creaser C, Demmons-O’Brien S, Van Wijhe R, Bance M. Cochlear implantation in Cockayne syndrome: our experience of two cases with different outcomes. Laryngoscope. 2007;117:939–43.

    Article  Google Scholar 

  14. Cook S. Cockayne’s syndrome. Another cause of difficult intubation. Anaesthesia. 1982;37:1104–7.

    Article  CAS  Google Scholar 

  15. Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC. Manitoba 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;66:1221–8.

    Article  CAS  Google Scholar 

  16. Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet. 2012;44:586–92.

    Article  CAS  Google Scholar 

  17. Iwasaki S, Kaga K. Chronological changes of auditory brainstem responses in Cockayne’s syndrome. Int J Pediatr Otorhinolaryngol. 1994;30:211–21.

    Article  CAS  Google Scholar 

  18. Scaioli V, D’Arrigo S, Pantaleoni C. Unusual neurophysiological features in Cockayne’s syndrome: a report of two cases as a contribution to diagnosis and classification. Brain and Development. 2004;26(4):273–80.

    Article  Google Scholar 

  19. Koob M, Laugel V, Durand M, Fothergill H, Dalloz C, Sauvanaud F, Dollfus H, Namer IJ, Dietemann JL. Neuroimaging in Cockayne syndrome. AJNR Am J Neuroradiol. 2010;31:1623–30.

    Article  CAS  Google Scholar 

  20. Nakajima E, Hattori A, Ito T, Kobayashi S, Nakajima Y, Ando N, Sugita K, Saitoh S. Onset of complications and management of Cockayne syndrome type 1. J Jpn Pediatr Soc. 2013;117:760–5. (in Japanese).

    Google Scholar 

  21. Motojima T, Sugita K, Omata T, Fujii K. Clinical examination of renal function in Cockayne syndrome. No To Hattatsu. 2014;46:311–4. (in Japanese).

    PubMed  Google Scholar 

  22. Zappitelli M, Parvex P, Joseph L, Paradis G, Grey V, Lau S, Bell L. Derivation and validation of cystatin C-based prediction equations for GFR in children. Am J Kidney Dis. 2006;48(2):221–30.

    Article  CAS  Google Scholar 

  23. Okoshi Y, Tanuma N, Miyata R, Hayashi M. Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome. Brain Dev. 2014;36:907–13.

    Article  Google Scholar 

  24. Neilan EG, et al. Response of motor complications in Cockayne syndrome to carbidopa-levodopa. Arch Neurol. 2008;65:1117–21.

    Article  Google Scholar 

  25. Hebb MO, Gaudet P, Mendez I. Deep brain stimulation to treat hyperkinetic symptoms of Cockayne syndrome. Mov Disord. 2006;21:112–5.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Neurology, National Center for Child Health and Development, Tokyo, Japan

    Masaya Kubota

Authors
  1. Masaya Kubota
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Masaya Kubota .

Editor information

Editors and Affiliations

  1. Department of Dermatology, Graduate School of Medicine, Kobe University, Kobe, Japan

    Chikako Nishigori

  2. Biosignal Research Center, Kobe University, Kobe, Japan

    Kaoru Sugasawa

Rights and permissions

Reprints and permissions

Copyright information

© 2019 Springer Nature Singapore Pte Ltd.

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Kubota, M. (2019). Cockayne Syndrome: Clinical Aspects. In: Nishigori, C., Sugasawa, K. (eds) DNA Repair Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-6722-8_9

Download citation

  • DOI: https://doi.org/10.1007/978-981-10-6722-8_9

  • Published:

  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-6721-1

  • Online ISBN: 978-981-10-6722-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation