Cockayne syndrome: Review of 25 cases

Ozdirim, E; Topçu, Meral; Özön, Alev; Cila, Ayşenur

doi:10.1016/s0887-8994(96)00229-9

Cited by 43 publications

(24 citation statements)

References 12 publications

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“…A diagnosis of CS would also obviously be consistent with the inherited mutations in the CSB gene observed in the patients. The apparent absence of detectable basal ganglia calcification in the siblings studied by Greenhaw et al (1992) is notable, but other CS patients without basal ganglia calcification have been described in the literature (Ozdirim et al, 1996).…”

Section: Can Desanctis-cacchione Syndrome Results From Mutations In Thmentioning

confidence: 80%

The case for 8,5′-cyclopurine-2′-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum

Brooks

2007

Neuroscience

112

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Patients with the genetic disease xeroderma pigmentosum (XP) lack the capacity to carry out a specific type of DNA repair process called nucleotide excision repair (NER). The NER pathway plays a critical role in the repair of DNA damage resulting from UV radiation. A subset of XP patients develop a profound neurodegenerative condition known as XP neurological disease. Robbins and colleagues (PNAS 75:1984(PNAS 75: -88, 1978 hypothesized that since UV light cannot reach into the human brain, XP neurological disease results from some form of endogenous DNA damage that is normally repaired by the NER pathway. In the absence of NER, the damage accumulates, causing neuronal death by blocking transcription. In this manuscript, I consider the evidence that a particular class of oxidative DNA lesions, the 8, 5'-cyclopurine-2'-deoxynucleosides, fulfills many of the criteria expected of neurodegenerative DNA lesions in XP. Specifically, these lesions are chemically stable, endogenous DNA lesions that are repaired by the NER pathway but not by any other known process, and strongly block transcription by RNA polymerase II in cells from XP patients. A similar set of criteria might be used to evaluate other candidate DNA lesions responsible for neurological diseases resulting from defects in other DNA repair mechanisms as well.

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Section: Can Desanctis-cacchione Syndrome Results From Mutations In Thmentioning

confidence: 80%

The case for 8,5′-cyclopurine-2′-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum

Brooks

2007

Neuroscience

112

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“…CS was first described by Edward Cockayne in 1936(Cockayne 1936. To date, approximately 200 cases have been reported in the literature (Nance and Berry 1992;Ozdirim et al 1996;Pasquier et al 2006;Rapin et al 2006). Despite UV sensitivity, CS is not associated with an elevated risk of skin cancer as observed in the related NER deficiency syndrome xeroderma pigmentosum (XP).…”

Section: Cockayne Syndrome and Trichothiodystrophymentioning

confidence: 99%

Relationship Between DNA Damage and Energy Metabolism: Evidence from DNA Repair Deficiency Syndromes

Vose¹,

Mitchell²

2011

DNA Repair and Human Health

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“…Cockayne syndrome (CS) is a rare disorder [Ozdirim et al, 1996] first described in 1936 [Cockayne, 1936]. The principal features include: progressive loss of muscle and subcutaneous tissue, short stature, premature aging, senile face, mental retardation, microcephaly, enophthalmos, retinopathy, beak-like nose, hearing loss, carious teeth, relatively large hands and feet, joint contractures, photosensitive dry skin, and thin hair [Cockayne, 1946;MacDonald et al, 1960;Goldsmith, 1997;Meira et al, 2000].…”

Section: Introductionmentioning

confidence: 99%

“…Inheritance is autosomal recessive [Nance and Berry, 1992;Ozdirim et al, 1996]. The diagnosis is basically clinical, though supportive diagnostic tests are available including computerized tomography (CT) brain, bone X-ray and genetic (DNA) analysis [Nance and Berry, 1992;Lehman et al, 1993;Ozdirim et al, 1996]. The prognosis is poor; most affected children mostly die by the second decade of life [Goldsmith, 1997].…”

Section: Introductionmentioning

confidence: 99%

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Cockayne syndrome in three sisters with varying clinical presentation

Mahmoud

Yousef

Al-Hifzi³

et al. 2002

Am. J. Med. Genet.

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We report three sisters showing the clinical features and investigational findings of Cockayne syndrome (CS). In the rehabilitation unit of Northwest Armed Forces Hospital (N.W.A.F.H.), Tabuk, Saudi Arabia, there was a 12-year-old girl with typical features of CS. The girl had no apparent problems until the end of the first year when growth and developmental delay prompted medical evaluation. Brain CT, bone X-rays, auditory and ophthalmological evaluation confirmed the clinical impression of Cockayne syndrome. Two of her 13 sibs, both sisters, were later found to have the same syndrome. The sisters varied in clinical severity, as two of them had cataracts and early global delay and died early of inanition and infection. The third showed the disease manifestations at a relatively later age, did not have cataract, exhibited milder manifestations of the disease, and remains alive. The parents are not related by any way and the father is married to two other wives with 11 unaffected children. This report documents variable degrees of manifestations in sibs who presumably have the same gene mutation.

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Cockayne syndrome: Review of 25 cases

Cited by 43 publications

References 12 publications

The case for 8,5′-cyclopurine-2′-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum

The case for 8,5′-cyclopurine-2′-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum

Relationship Between DNA Damage and Energy Metabolism: Evidence from DNA Repair Deficiency Syndromes

Cockayne syndrome in three sisters with varying clinical presentation

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