Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

Clinical Neurophysiology

Volumn 126, Issue 7, 2015, Pages 1435-1439

  Gitiaux, Cyril ^a   Blin Rochemaure, Nathalie ^b   Hully, Marie ^a   Echaniz Laguna, Andoni ^c   Calmels, Nadège ^d   Bahi Buisson, Nadia ^a   Desguerre, Isabelle ^a   Dabaj, Ivana ^b   Wehbi, Samer ^e   Quijano Roy, Susana ^b   Laugel, Vincent ^f  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Hôpital de Garches   (France)

^c HÔPITAL DE HAUTEPIERRE   (France)

^d HÔPITAL CIVIL   (France)

^e CENTRE HOSPITALIER DE VERSAILLES   (France)

^f INSERM U1112   (France)

Author keywords

Cockayne syndrome; ERCC6 CSB; ERCC8 CSA; Peripheral neuropathy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COCKAYNE SYNDROME; CORRELATIONAL STUDY; DEMYELINATING NEUROPATHY; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; INFANT; INVESTIGATIVE PROCEDURES; MALE; MIDDLE AGED; NERVE BLOCK; NERVE CONDUCTION; NEUROPHYSIOLOGY; PATIENT IDENTIFICATION; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; YOUNG ADULT; COMPARATIVE STUDY; DEMYELINATING DISEASES; ELECTROMYOGRAPHY; GENETICS; MUTATION; NEWBORN; PATHOPHYSIOLOGY; PHYSIOLOGY; SEVERITY OF ILLNESS INDEX;

DNA HELICASE; ERCC6 PROTEIN, HUMAN; ERCC8 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COCKAYNE SYNDROME; DEMYELINATING DISEASES; DISEASE PROGRESSION; DNA HELICASES; DNA REPAIR ENZYMES; ELECTROMYOGRAPHY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; NEURAL CONDUCTION; NEUROPHYSIOLOGY; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84930532226     PISSN: 13882457     EISSN: 18728952     Source Type: Journal    
DOI: 10.1016/j.clinph.2014.10.014     Document Type: Article

References (25)

1. Bailey A.D., Gray L.T., Pavelitz T., Newman J.C., Horibata K., Tanaka K., et al. The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells. DNA Repair 2012, 11:488-501.
2. Bolton C.F., Royden Jones H. Pediatric clinical electromyography 1995, Lippincott Williams & Wilkins, Philadelphia.
3. Cameron C.L., Kang P.B., Burns T.M., Darras B.T., Jones H.R. Multifocal slowing of nerve conduction in metachromatic leukodystrophy. Muscle Nerve 2004, 29:531-536.
4. Cleaver J.E., Bezrookove V., Revet I., Huang E.J. Conceptual developments in the causes of Cockayne syndrome. Mech Ageing Dev 2013, 134:284-290.
5. Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R., et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 1995, 82:555-564.
6. Jaarsma D., van der Pluijm I., van der Horst G.T., Hoeijmakers J.H. Cockayne syndrome pathogenesis: lessons from mouse models. Mech Ageing Dev 2013, 134:180-195.
7. Kleijer W.J., Laugel V., Berneburg M., Nardo T., Fawcett H., Gratchev A., et al. Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair 2008, 7:744-750.
8. Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev 2013, 134:161-170.
9. Laugel V., Dalloz C., Durand M., Sauvanaud F., Kristensen U., Vincent M.C., et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat 2010, 31:113-126.
10. Laugel V., Dalloz C., Stary A., Cormier-Daire V., Desguerre I., Renouil M., et al. Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet 2008, 16:320-327.
11. Leech R.W., Brumback R.A., Miller R.H., Otsuka F., Tarone R.E., Robbins J.H. Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings. J Neuropathol Exp Neurol 1985, 44:507-519.
12. Lindenbaum Y., Dickson D., Rosenbaum P., Kraemer K., Robbins I., Rapin I. Xeroderma pigmentosum/Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol 2001, 5:225-242.
13. Mayne L.V., Lehmann A.R. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Res 1982, 42:1473-1478.
14. Miller R.G., Gutmann L., Lewis R.A., Sumner A.J. Acquired versus familial demyelinative neuropathies in children. Muscle Nerve 1985, 8:205-210.
15. Moosa A., Dubowitz V. Peripheral neuropathy in Cockayne's syndrome. Arch Dis Child 1970, 45:674-677.
16. Nance M.A., Berry S.A. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992, 42:68-84.
17. Newman J.C., Bailey A.D., Fan H.Y., Pavelitz T., Weiner A.M. An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. PLoS Genet 2008, 4:e1000031.
18. Ohnishi A., Mitsudome A., Murai Y. Primary segmental demyelination in the sural nerve in Cockayne's syndrome. Muscle Nerve 1987, 10:163-167.
19. Özdirim E., Topçu M., Ozön A., Cila A. Cockayne syndrome: review of 25 cases. Pediatr Neurol 1996, 15:312-316.
20. 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.
21. Smits M.G., Gabreëls F.J., Renier W.O., Joosten E.M., Gabreëls-Festen A.A., ter Laak H.J., et al. Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings. Neuropediatrics 1982, 13:161-167.
22. Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R. Genetic analysis of twenty-two patients with Cockayne syndrome. Hum Genet 1996, 97:418-423.
23. Troelstra C., van Gool A., de Wit J., Vermeulen W., Bootsma D., Hoeijmakers J.H. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992, 71:939-953.
24. Vos A., Gabreëls-Festen A., Joosten E., Gabreëls F., Renier W., Mullaart R. The neuropathy of Cockayne syndrome. Acta Neuropathol 1983, 61:153-156.
25. 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.