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Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

Weidenheim, Karen M., Dickson, Dennis W., Rapin, Isabelle·2009·Mechanisms of Ageing and Development

DOI 10.1016/j.mad.2009.07.006

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Abstract

Global growth and development failure, premature, accelerated, pathologic aging, and neurodegeneration characterize Cockayne syndrome (CS) and the cerebro-oculo-facial-skeletal and xeroderma pigmentosum/CS syndromes which overlap CS partially in their genetic, somatic, and neuropathologic features. Mutations of CSA or CSB genes jeopardize transcription-coupled repair of damaged nuclear and mitochondrial DNA and resumption of replication and transcription. Resultant defective proteins or gene silencing eventuate in profound dwarfism and micrencephaly, cachexia, vasculopathy, and neurodegeneration. Cellular effects are highly selective. Purkinje cells may die by apoptosis and have grossly dystrophic dendrites. Neuronal death and axonal spheroids indexing neuronal pathology predominate in, but are not limited to, the cerebellum. Progressive loss of retinal, cochlear, and vestibular sensory receptors foster degeneration of ganglion cells and transneuronal brain degeneration. Some proliferating astrocytes are multinucleated and bizarre. Primary damage of oligodendrocytes and Schwann cells may - or may not - explain severe patchy myelin loss ("tigroid leukodystrophy") and segmental demyelinating peripheral neuropathy. Age-related changes are minor in the brain, although precocious severe athero- and arteriolosclerosis are responsible for occasional strokes. Vasculopathology may contribute to myelin loss and to dystrophic mineralization of neurons and vessels, especially in basal ganglia and cerebellum. Understanding the genetics, biochemical, and cellular pathophysiology of these disorders remains fragmentary.

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The Association Between Quantitative Measures of Dementia and of Senile Change in the Cerebral Grey Matter of Elderly Subjects
Blessed, G., Tomlinson, B. E., & Roth, M. (1968) · British Journal of Psychiatry · doi:10.1192/bjp.114.512.797 · Cited by 4,117
Molecular Regulation of Adipogenesis
Rosen, E. D., & Spiegelman, B. M. (2000) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.16.1.145 · Cited by 1,310
Age, Neuropathology, and Dementia
Savva, G. M., Wharton, S. B., Ince, P. G., Forster, G., Matthews, F. E., & Brayne, C. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0806142 · Cited by 900
Cockayne syndrome: Review of 140 cases
Nance, M. A., & Berry, S. A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420115 · Cited by 806
Phenotype and Course of Hutchinson–Gilford Progeria Syndrome
Merideth, M. A., Gordon, L. B., Clauss, S. B., Sachdev, V., Smith, A. C. M., Perry, M. B., Brewer, C. C., Zalewski, C. K., Kim, H. J., Solomon, B. I., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706898 · Cited by 740
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
Niedernhofer, L. J., Garinis, G. A., Raams, A., Lalai, A. S., Robinson, A. R., Appeldoorn, E., Odijk, H., Oostendorp, R., Ahmad, A., van Leeuwen, W., et al. (2006) · Nature · doi:10.1038/nature05456 · Cited by 669
Neuropathology of nondemented aging: presumptive evidence for preclinical Alzheimer disease
Price, J. L., McKeel, D. W., Buckles, V. D., Roe, C. M., Xiong, C., Grundman, M., Hansen, L. A., Petersen, R. C., Parisi, J. E., Dickson, D. W., et al. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2009.04.002 · Cited by 661
Self-citation
Developmental Neuropathology
Friede, R. L. (1989) · Springer eBooks · doi:10.1007/978-3-642-73697-1 · Cited by 607
Newborn screening: toward a uniform screening panel and system—executive summary
Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., Howell, R. R., & American College of Medical Genetics Newborn Screening Expert Group (2006) · Pediatrics · doi:10.1542/peds.2005-2633i · Cited by 494
Transcription-coupled nucleotide excision repair in mammalian cells: Molecular mechanisms and biological effects
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship
Kraemer, K. H., Patronas, N. J., Schiffmann, R., Brooks, B. P., Tamura, D., & DiGiovanna, J. J. (2007) · Neuroscience · doi:10.1016/j.neuroscience.2006.12.020 · Cited by 443
Dwarfism with retinal atrophy and deafness
Cockayne, E. A. (1936) · Archives of Disease in Childhood · doi:10.1136/adc.11.61.1 · Cited by 377
Neurodegeneration with brain iron accumulation
Hayflick, S. J., Kurian, M. A., & Hogarth, P. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00019-1 · Cited by 323
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
Faghri, S., Tamura, D., Kraemer, K. H., & DiGiovanna, J. J. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058743 · Cited by 264
Actin-binding Proteins Coronin-1a and IBA-1 are Effective Microglial Markers for Immunohistochemistry
Ahmed, Z., Shaw, G., Sharma, V. P., Yang, C., McGowan, E., & Dickson, D. W. (2007) · Journal of Histochemistry & Cytochemistry · doi:10.1369/jhc.6a7156.2007 · Cited by 258
Self-citation
Cockayne syndrome and xeroderma pigmentosum
Rapin, I., Lindenbaum, Y., Dickson, D. W., Kraemer, K. H., & Robbins, J. H. (2000) · Neurology · doi:10.1212/wnl.55.10.1442 · Cited by 255
Self-citation
Impaired Genome Maintenance Suppresses the Growth Hormone–Insulin-Like Growth Factor 1 Axis in Mice with Cockayne Syndrome
van der Pluijm, I., Garinis, G. A., Brandt, R. M. C., Gorgels, T. G. M. F., Wijnhoven, S., Diderich, K. E. M., de Wit, J., Mitchell, J. R., van Oostrom, C., Beems, R. B., et al. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0050002 · Cited by 240
First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure
Jaspers, N. G. J., Raams, A., Silengo, M., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia‐Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/512486 · Cited by 218
DNA Damage and Repair
Martin, L. J. (2008) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31816ff780 · Cited by 213
XPG Stabilizes TFIIH, Allowing Transactivation of Nuclear Receptors: Implications for Cockayne Syndrome in XP-G/CS Patients
Ito, S., Kuraoka, I., Chymkowitch, P., Compe, E., Takedachi, A., Ishigami, C., Coin, F., Egly, J., & Tanaka, K. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.03.013 · Cited by 194
What Can Progeroid Syndromes Tell Us About Human Aging?
Kipling, D., Davis, T., Ostler, E. L., & Faragher, R. (2004) · Science · doi:10.1126/science.1102587 · Cited by 184
AIDS
Belman, A. L., Lantos, G., Horoupian, D. S., Novick, B. E., Ultmann, M. H., Dickson, D. W., & Rubinstein, A. (1986) · Neurology · doi:10.1212/wnl.36.9.1192 · Cited by 183
Self-citation
Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome
Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., & Tanaka, K. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404587101 · Cited by 178
Ubiquitin immunoreactive structures in normal human brains. Distribution and developmental aspects.
Dickson, D. W., Wertkin, A. M., Kress, Y., Ksiȩżak-Reding, H., & Yen, S.-H. (1990) · PubMed · Cited by 169
Self-citation
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
Greenhaw, G. A., Hebert, A. A., Duke-Woodside, M. E., Butler, I. J., Hecht, J. T., Cleaver, J. E., Thomas, G. H., & Horton, W. A. (1992) · Europe PMC (PubMed Central) · Cited by 162
Pathological markers associated with normal aging and dementia in the elderly
Crystal, H. A., Dickson, D. W., Sliwinski, M. J., Lipton, R. B., Grober, E., Marks‐Nelson, H., & Antis, P. (1993) · Annals of Neurology · doi:10.1002/ana.410340410 · Cited by 161
Self-citation
The role of CSA in the response to oxidative DNA damage in human cells
D'Errico, M., Parlanti, E., Teson, M., Degan, P., Lemma, T., Calcagnile, A., Iavarone, I., Jaruga, P., Ropolo, M., Pedrini, A. M., et al. (2007) · Oncogene · doi:10.1038/sj.onc.1210232 · Cited by 137
Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy
Graham, J. M., Anyane‐Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J., Garritsen, V. H., Busch, D. B., Edersheim, T. G., & Jaspers, N. G. J. (2001) · The American Journal of Human Genetics · doi:10.1086/321295 · Cited by 133
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
Stevnsner, T., Müftüoğlu, M., Aamann, M. D., & Bohr, V. A. (2008) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2008.04.009 · Cited by 130
Cockayne syndrome in adults: Review with clinical and pathologic study of a new case
Rapin, I., Weidenheim, K., Lindenbaum, Y., Rosenbaum, P., Merchant, S. N., Krishna, S., & Dickson, D. W. (2006) · Journal of Child Neurology · doi:10.1177/08830738060210110101 · Cited by 124
Self-citation
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome
Oh, K., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A. R., Friedmann, P. S., Emmert, S., Gratchev, A. N., Lachlan, K. L., et al. (2006) · Human Mutation · doi:10.1002/humu.20392 · Cited by 118
Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B
Stevnsner, T., Nyaga, S. G., de Souza-Pinto, N. C., van der Horst, G. T. J., Gorgels, T. G. M. F., Hogue, B. A., Thorslund, T., & Bohr, V. A. (2002) · Oncogene · doi:10.1038/sj.onc.1205994 · Cited by 111
NEUROLOGICAL DISEASE IN XERODERMA PIGMENTOSUM: DOCUMENTATION OF A LATE ONSET TYPE OF THE JUVENILE ONSET FORM
Robbins, J. H., Brumback, R. A., MENDIONES, M., Barrett, S. F., Carl, J. R., Cho, S., DENCKLA, M. B., Ganges, M. B., Gerber, L. H., Guthrie, R. A., et al. (1991) · Brain · doi:10.1093/brain/114.3.1335 · Cited by 102
Ocular Manifestations in the Inherited DNA Repair Disorders
Dollfus, H., Porto, F. B. O., Caussade, P., Speeg‐Schatz, C., Sahel, J., Grosshans, E., Flament, J., & Sarasin, A. R. (2003) · Survey of Ophthalmology · doi:10.1016/s0039-6257(02)00400-9 · Cited by 102
Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.
Lehmann, A. R., Thompson, A., Harcourt, S. A., Stefanini, M., & Norris, P. G. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.8.679 · Cited by 100
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
Compe, E., Malerba, M., Soler, L., Marescaux, J., Borrelli, E., & Egly, J. (2007) · Nature Neuroscience · doi:10.1038/nn1990 · Cited by 95
Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice
Laposa, R. R., Huang, E. J., & Cleaver, J. E. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610619104 · Cited by 94
Cockayne syndrome: Unusual neuropathological findings and review of the literature
Soffer, D., Grotsky, H. W., Rapin, I., & Suzuki, K. (1979) · Annals of Neurology · doi:10.1002/ana.410060407 · Cited by 93
Self-citation
Oxidative stress in developmental brain disorders
Hayashi, M. (2009) · Neuropathology · doi:10.1111/j.1440-1789.2008.00888.x · Cited by 91
REVIEW ARTICLE Neurodegeneration with brain iron accumulation
Gregory, A., & Hayflick, S. J. (2006) · Folia Neuropathologica · Cited by 88
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J., Martin‐Coignard, D., Drouin‐Garraud, V., Valayannopoulos, V., Sarasin, A. R., & Dollfus, H. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.057141 · Cited by 83
Xeroderma pigmentosum/Cockayne syndrome complex: first neuropathological study and review of eight other cases
Lindenbaum, Y., Dickson, D. W., Rosenbaum, P. S., Kraemer, K. H., Robbins, J. H., & Rapin, I. (2001) · European Journal of Paediatric Neurology · doi:10.1053/ejpn.2001.0523 · Cited by 83
Self-citation
Retinal Degeneration and Ionizing Radiation Hypersensitivity in a Mouse Model for Cockayne Syndrome
Gorgels, T. G. M. F., van der Pluijm, I., Brandt, R. M. C., Garinis, G. A., STEEG, H. V., van den Aardweg, G. J., Jansen, G. H., Ruijter, J. M., Bergen, A. A. B., Norren, D. V., et al. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01037-06 · Cited by 82
Oligodendrocytes
Benarroch, E. E. (2009) · Neurology · doi:10.1212/wnl.0b013e3181a6b123 · Cited by 81
Normal Pressure Hydrocephalus
Brumback, R. A. (1978) · Archives of Neurology · doi:10.1001/archneur.1978.00500300011002 · Cited by 78
Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
Brooks, P. J., Cheng, T., & Cooper, L. D. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.01.017 · Cited by 78
Cockayne's syndrome
Rowlatt, U. (1969) · Acta Neuropathologica · doi:10.1007/bf00687702 · Cited by 77
Neurodegeneration in hereditary nucleotide repair disorders
Itoh, M., Hayashi, M., Shioda, K., Minagawa, M., Isa, F., Tamagawa, K., Morimatsu, Y., & Oda, M. (1999) · Brain and Development · doi:10.1016/s0387-7604(99)00033-9 · Cited by 75
Peripheral Neuropathy in Cockayne's Syndrome
Moosa, A., & Dubowitz, V. (1970) · Archives of Disease in Childhood · doi:10.1136/adc.45.243.674 · Cited by 74
Nucleotide excision repair and neurological diseases
Nouspikel, T. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.03.015 · Cited by 73
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases withERCC2(XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy
Boyle, J., Ueda, T., Oh, K., Imoto, K., Tamura, D., Jagdeo, J. R., Khan, S. G., Nadem, C., DiGiovanna, J. J., & Kraemer, K. H. (2008) · Human Mutation · doi:10.1002/humu.20768 · Cited by 71
The Neuropathology of Cockayne's Syndrome*†
Moossy, J. J. (1967) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-196710000-00010 · Cited by 63
Aicardi–Goutières syndrome (AGS)
Stephenson, J. B. P. (2008) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2007.11.010 · Cited by 62
DNA Repair and Ultraviolet Mutagenesis in Cells From a New Patient With Xeroderma Pigmentosum Group G and Cockayne Syndrome Resemble Xeroderma Pigmentosum Cells
Moriwaki, S., Stafanim, M., Lehmann, A. R., Hoeijmakers, J. H. J., Robbins, J. H., Rapin, I., Botta, E., Tanganelli, B., Vermeulen, W., Broughton, B. C., et al. (1996) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12584287 · Cited by 61
Self-citation
Tissue-specific accelerated aging in nucleotide excision repair deficiency
Niedernhofer, L. J. (2008) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2008.04.010 · Cited by 60
Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: Observations in distinguishing genetic-metabolic from acquired causes
Hoon, A. H., Reinhardt, E. M., Kelley, R. I., Breiter, S. N., Morton, D. H., Naidu, S., & Johnston, M. V. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)70160-4 · Cited by 56
Brain metabolite changes on in vivo proton magnetic resonance spectroscopy in children with congenital hypothyroidism
Gupta, R. K., Bhatia, V., Poptani, H., & Gujral, R. B. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70454-x · Cited by 56
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of slun tumors despite severe deficiency of DNA excision repair
Scott, R. J., Itin, P. H., Kleijer, W. J., Kolb, K., Arlett, C. F., & Muller, H. (1993) · Journal of the American Academy of Dermatology · doi:10.1016/0190-9622(93)70263-s · Cited by 54
Cockayne Syndrome: Clinical Study of Two Patients and Neuropathologic Findings in One
Sugarman, G. I., Landing, B. H., & Reed, W. B. (1977) · Clinical Pediatrics · doi:10.1177/000992287701600304 · Cited by 53
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome
Hayashi, M., Araki, S., Kohyama, J., Shioda, K., & Fukatsu, R. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.04.001 · Cited by 51
Developing master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repair
Perry, J. J. P., Fan, L., & Tainer, J. A. (2006) · Neuroscience · doi:10.1016/j.neuroscience.2006.10.045 · Cited by 50
Nucleotide excision repair deficient mouse models and neurological disease
Niedernhofer, L. J. (2008) · DNA repair · doi:10.1016/j.dnarep.2007.12.006 · Cited by 50
Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone
Fujimoto, W. Y., Greene, M. L., & Seegmiller, J. E. (1969) · The Journal of Pediatrics · doi:10.1016/s0022-3476(69)80317-3 · Cited by 50
Cockayne Syndrome
Leech, R. W., Brumback, R. A., Miller, R. H., Otsuka, F., Tarone, R. E., & Robbins, J. H. (1985) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198509000-00006 · Cited by 47
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
Pasquier, L. (2005) · Archives of Disease in Childhood · doi:10.1136/adc.2005.080473 · Cited by 43
Renal Lesions in Cockayne's Syndrome
Ohno, T., & Hirooka, M. (1966) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.89.151 · Cited by 41
Hutchinson–Gilford Progeria Syndrome, Aging, and the Nuclear Lamina
Korf, B. R. (2008) · New England Journal of Medicine · doi:10.1056/nejmp0800071 · Cited by 40
Cerebellar neurodegeneration in human hereditary DNA repair disorders
Kohji, T., Hayashi, M., Shioda, K., Minagawa, M., Morimatsu, Y., Tamagawa, K., & Oda, M. (1998) · Neuroscience Letters · doi:10.1016/s0304-3940(98)00109-8 · Cited by 39
Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset
Nishio, H., Kodama, S., Matsuo, T., Ichihashi, M., Ito, H., & Fujiwara, Y. (1987) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01800059 · Cited by 39
Histopathology of the Eye in Cockayne's Syndrome
Levin, P. S., Green, W. R., Victor, D. I., & MacLean, A. L. (1983) · Archives of Ophthalmology · doi:10.1001/archopht.1983.01040020095016 · Cited by 38
Cockayne's syndrome: case report
Crome, L., & Kanjilal, G. C. (1971) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.34.2.171 · Cited by 37
Neuropathological Findings in Eight Children with Cerebro-oculo-facio-skeletal (COFS) Syndrome
Bigio, M. R. D., Greenberg, C. R., RORKE, L. B., Schnur, R. E., McDonald‐McGinn, D. M., & Zackai, E. H. (1997) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199710000-00009 · Cited by 36
Cockayne syndrome in two adult siblings
Miyauchi, H., Horio, T., Akaeda, T., Asada, Y., Chang, H. R., Ishizaki, K., & Ikenaga, M. (1994) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(94)70034-6 · Cited by 36
Peripheral and Central Myelinopathy in Cockayne's Syndrome. Report of 3 Siblings
Smits, M. G., Gabreëls, F. J. M., Renier, W. O., Joosten, E. M. G., Gabreëls‐Festen, A. A. W. M., Laak, H. T., Pinckers, A. J. L. G., Hombergen, G. C. H. J., Notermans, S. L. H., & Thijssen, H. O. M. (1982) · Neuropediatrics · doi:10.1055/s-2008-1059617 · Cited by 35
Cockayne's Syndrome
Paddison, R. M., Moossy, J. J., Derbes, V. J., & Kloepfer, W. (1963) · International Journal of Dermatology · doi:10.1111/ijd.1963.2.4.195 · Cited by 33
Deafness in Cockayne's syndrome: Morphological, morphometric, and quantitative study of the auditory pathway
Gandolfi, A., Horoupian, D. S., Rapin, I., DeTeresa, R. M., & Hyams, V. J. (1984) · Annals of Neurology · doi:10.1002/ana.410150205 · Cited by 29
Self-citation
Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
Kleijer, W. J., van der Sterre, M. L. T., Garritsen, V. H., Raams, A., & Jaspers, N. G. J. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1541 · Cited by 27
Cockayne syndrome--an audiologic and temporal bone analysis.
Lj, S., Dp, M., & Farkashidy, J. (1984) · PubMed · Cited by 26
The Cockayne Syndrome: An Evaluation of Hypertension and Studies of Renal Pathology
Higginbottom, M. C., Griswold, W. R., Jones, K. L., Vasquez, M., Mendoza, S. A., & Wilson, C. B. (1979) · PEDIATRICS · doi:10.1542/peds.64.6.929 · Cited by 25
The neuropathy of Cockayne syndrome
Vos, A., Gabre�ls-Festen, A. A. W. M., Joosten, E. M. G., Gabre�ls, F. J. M., Renier, W. O., & Mullaart, R. A. (1983) · Acta Neuropathologica · doi:10.1007/bf00697396 · Cited by 25
Cockayne syndrome exhibits dysregulation of p21 and other gene products that may be independent of transcription-coupled repair
Cleaver, J. E., Hefner, E., Laposa, R. R., Karentz, D., & Marti, T. M. (2006) · Neuroscience · doi:10.1016/j.neuroscience.2006.08.074 · Cited by 23
Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa
Neilan, E. G., Delgado, M. R., Donovan, M. A., Kim, S. Y., Jou, R. L., Wu, B.-L., & Kang, P. B. (2008) · Archives of Neurology · doi:10.1001/archneur.65.8.1117 · Cited by 22
Deep brain stimulation to treat hyperkinetic symptoms of cockayne syndrome
Hebb, M. O., Gaudet, P., & Mendez, I. M. (2005) · Movement Disorders · doi:10.1002/mds.20665 · Cited by 22
Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles.
Takada, K., & Becker, L. E. (1986) · PubMed · Cited by 21
Distinctive skeletal dysplasia in Cockayne syndrome
Silengo, M., Franceschini, P., Bianco, R., BIAGIOLI, M., Pastorin, L., Vista, N., Baldassar, A., & BENSO, L. (1986) · Pediatric Radiology · doi:10.1007/bf02456305 · Cited by 21
Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
Sakai, T., Kikuchi, F., Takashima, S., Matsuda, H., & Watanabe, N. (1997) · Brain and Development · doi:10.1016/s0387-7604(96)00057-5 · Cited by 21
Demyelinating peripheral neuropathy in cockayne syndrome: a histopathologic and morphometric study
Sasaki, K., Tachi, N., Shinoda, M., Satoh, N., Minami, R., & Ohnishi, A. (1992) · Brain and Development · doi:10.1016/s0387-7604(12)80098-2 · Cited by 20
Neurodegeneration with Brain Iron Accumulation
Schneider, S. A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00042-5 · Cited by 19
A neuropathological study of early onset cockayne syndrome with chromosomal anomaly 47XXX
Hayashi, M., Hayakawa, K., Suzuki, F., Sugita, K., Satoh, J., & Morimatsu, Y. (1992) · Brain and Development · doi:10.1016/s0387-7604(12)80282-8 · Cited by 17
Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients
Nishiwaki, T., Kobayashi, N., Iwamoto, T., Yamamoto, A., Sugiura, S., Liu, Y., Sarasin, A. R., Okahashi, Y., Hirano, M., Ueno, S., et al. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.08.009 · Cited by 15
Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation
Hori, A., Tamagawa, K., Eber, S., Westmeier, M., & Hansmann, I. (1987) · Acta Neuropathologica · doi:10.1007/bf00687219 · Cited by 15
Necropsy of original case of Lowry's syndrome.
Dolman, C. L., & Wright, V. J. (1978) · Journal of Medical Genetics · doi:10.1136/jmg.15.3.227 · Cited by 15
Chronological changes of auditory brainstem responses in Cockayne's syndrome
Iwasaki, S., & Kaga, K. (1994) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/0165-5876(94)90062-0 · Cited by 14
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency
Park, S. K., Chang, S. H., Cho, S. B., Baek, H. S., & Lee, D. (1994) · Journal of Korean Medical Science · doi:10.3346/jkms.1994.9.1.74 · Cited by 14
Cockayne's Syndrome: case report of a successful pregnancy
Lahiri, S., & Davies, N. P. (2003) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2003.01190.x · Cited by 12
Rare Case of Cockayne Syndrome with Xeroderma Pigmentosum
Bartenjev, M. R. B. I. (2000) · Acta Dermato Venereologica · doi:10.1080/000155500750043032 · Cited by 11
An Adult Case of Cockayne Syndrome without Sclerotic Angiopathy.
INDUE, T., Sano, N., Yuji, I. T. O., Matsuzaki, Y., Okauchi, Y., KONDO, H., Horiuchi, N., Nakao, K., & Iwata, M. (1997) · Internal Medicine · doi:10.2169/internalmedicine.36.565 · Cited by 11
Progeroid syndrome as a model for impaired bone formation in senile osteoporosis
Hishiya, A., & Watanabe, K. (2004) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-004-0517-z · Cited by 10
Aortic dilatation in Cockayne syndrome
Ovaert, C., Cano, A., & Chabrol, B. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31986 · Cited by 9
[Cockayne's syndrome presenting cerebral ischemic attack: case report].
Shirasaki, N., Hayashi, M., Handa, Y., Kabuto, M., Tsuji, T., Kawano, H., & Kobayashi, H. (1986) · PubMed · Cited by 9
Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome
Smits, M., Gabreëls, F. J. M., Froeling, P., ABREU, R. A. D., Thijssen, H. O. M., & Renier, W. O. (1983) · Clinical Neurology and Neurosurgery · doi:10.1016/0303-8467(83)90044-6 · Cited by 9
Cerebro-Oculo-Facio-Skeletal Syndrome as a Human Example for Accelerated Cochlear Nerve Degeneration
Fish, J., Scholtz, A. W., Hussl, B., Kreczy, A., & Schrott‐Fischer, A. (2001) · Otology & Neurotology · doi:10.1097/00129492-200103000-00009 · Cited by 7
A 35‐year‐old female with growth and developmental retardation, progressive ataxia, dementia and visual loss
Mizuguchi, M., & Itoh, M. (2005) · Neuropathology · doi:10.1111/j.1440-1789.2004.00589.x · Cited by 7
82 RECURRENT CENTRAL NERVOUS SYSTEM DEMYELINATION AND REMYELINATION IN THE MOUSE
Johnson, E. S., & Ludwin, S. K. (1980) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198005000-00090 · Cited by 5
83 ENLARGED OLIGODENDROGLIAL NUCLEI IN COCKAYNEʼS SYNDROME
Johnson, P. C., Nielsen, S. L., & Richardson, E. P. (1980) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198005000-00091 · Cited by 3
Cockayne-Syndrom mit betonter zerebraler Symptomatik - Verlaufsbeobachtung bei zwei Schwestern -
Menges, E.-M., Debus, O. M., Sträter, R., Schuierer, G. R., & Kurlemann, G. (2001) · Klinische Pädiatrie · doi:10.1055/s-2001-15864 · Cited by 3
Vestibular Findings and Brainstem Pathology in Two Siblings with Cockayne’s Syndrome
Iwasaki, S., Kaga, K., Yagi, M., & Kuroda, M. (2010) · ORL · doi:10.1159/000276867 · Cited by 2

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Johnson, 1980, Enlarged oligodendroglial nuclei in Cockayne's syndrome, J. Neuropathol. Exp. Neurol., 39, 364

Sorted by citations

Hallmarks of Brain Aging: Adaptive and Pathological Modification by Metabolic States
Mattson, M. P., & Arumugam, T. V. (2018) · Cell Metabolism · doi:10.1016/j.cmet.2018.05.011 · Cited by 1,242
DNA Damage, DNA Repair, Aging, and NeurodegenerationPreprint
Maynard, S., Fang, E. F., Scheibye‐Knudsen, M., Croteau, D. L., & Bohr, V. A. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a025130 · Cited by 454
A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in Cockayne syndrome
Scheibye-Knudsen, M., Mitchell, S. J., Fang, E. F., Iyama, T., Ward, T., Wang, J., Dunn, C. A., Singh, N., Veith, S., Hasan-Olive, M. M., et al. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.10.005 · Cited by 352
DNA repair deficiency in neurodegeneration
Jeppesen, D. K., Bohr, V. A., & Stevnsner, T. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.04.013 · Cited by 374
Cockayne syndrome: Clinical features, model systems and pathways
Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E., Croteau, D. L., & Bohr, V. A. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.08.002 · Cited by 262

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Authors: Weidenheim, K. M., Dickson, D. W., & Rapin, I.
Affiliations: Albert Einstein College of Medicine (US)
Corresponding author: Rapin, Isabelle
ORCID: Dickson, Dennis W.
Venue: Mechanisms of Ageing and Development
Publisher: Elsevier BV
Published: 2009-09
Volume: 130
Issue: 9
Pages: 619-636
ISSN: 0047-6374 (ISSN-L)
DOI: 10.1016/j.mad.2009.07.006
OpenAlex: W2041742383
Cited by: 156
References: 108
Citations by year: 2026: 7 · 2025: 5 · 2024: 7 · 2023: 2 · 2022: 9 · 2021: 12 · 2020: 10 · 2019: 5 · 2018: 8 · 2017: 7 · 2016: 14 · 2015: 9 · 2014: 15 · 2013: 12 · 2012: 15
FWCI: 4.12
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Mechanisms of Ageing and Development (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: Cockayne syndrome, xeroderma pigmentosum, transcription-coupled repair, premature aging, neurodegeneration, cerebellar degeneration, demyelinating peripheral neuropathy, vasculopathy, oligodendrocyte damage, Schwann cells, development failure, dwarfism, microcephaly, gene silencing
MeSH terms: Adolescent, Adult, Child, Cockayne Syndrome, Female, Humans, Male, Myelin Sheath, Nerve Degeneration, Neurons, Physiological Phenomena, Fatal Outcome, Aging, Premature

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Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration

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