Cockayne syndrome

Kennedy, Robert M.; Rowe, Vernon; Kepes, John J.

doi:10.1212/wnl.30.12.1268

Cited by 34 publications

(28 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As a result, many in this group are not suspected of having CS until adulthood and/or after they have visited many physician specialists-if they are diagnosed at all [Inoue et al, 1997;Rapin et al, 2006]. The literature describes mild CS/CS in adults as atypical or rare [Kennedy et al, 1980;Nance and Berry, 1992;Rapin et al, 2006;Morris et al, 2007;Hashimoto et al, 2008], yet the even distribution of severity group membership among survey subjects here (Table I) implies that mild CS may be under-diagnosed.…”

Section: Mild Csmentioning

confidence: 86%

“…Many articles contain explicit statements about the severity of a case, such as using the words severe or mild or atypical to describe a patient. Examples include, but are not limited to [Kennedy et al, 1980;Nishio et al, 1988;Lahiri and Davies, 2003] other articles made a patient's severity group clear in spite of not using explicit terms [Levin et al, 1983;Tinsa et al, 2009;Jaakkola et al, 2010]. Information that made a patient's severity group clear included photographs, data related to length-or heightfor-age and head circumference, and descriptions of a patient's skills and abilities.…”

Section: Severity Group Classificationsmentioning

confidence: 99%

See 1 more Smart Citation

A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

105

109

View full text Add to dashboard Cite

Cockayne syndrome (CS) is a rare degenerative disorder with a common set of symptoms but a very wide variation in phenotype. The variation is sufficiently wide that CS patients have traditionally been described in three different severity groups. Unfortunately, there is no single source for information about the different severity groups. This problem can complicate not only diagnosis, but accurate prognosis as well. The goal of this study was to describe the phenotypic variation in CS as completely as possible. This article provides extensive descriptions of traits common to each group and their degree of severity in each group. Forty-five people with CS were surveyed and information from the published literature was used to increase the sample sizes for calculations. This study provides new information, including statistical data for each of the three severity groups (mean age at death, average head circumference, and average length or stature). The study includes cerebro-oculo-facial syndrome (COFS) as a severe form of CS, based on results of recently published genetic studies performed by other authors. This study proposes revised names for CS severity groups: severe, moderate, and mild. The groups were formerly called Type II/early onset CS, Type I/classical CS, and Type III/atypical/mild/late-onset CS, respectively. A fourth newly documented group, UV sensitivity only/adult onset, is also described. Average ages of death were calculated as 5.0 years (severe), 16.1 years (moderate), and 30.3 years (mild).

show abstract

Section: Mild Csmentioning

confidence: 86%

Section: Severity Group Classificationsmentioning

confidence: 99%

A comprehensive description of the severity groups in Cockayne syndrome

Natale¹

2011

American J of Med Genetics Pt A

105

109

View full text Add to dashboard Cite

show abstract

“…On the other hand, CS cases show a wide range of clinical severity and some CS cases with clinically atypical features have been reported (22,23). Schmickel el ul.…”

Section: Discussionmentioning

confidence: 99%

Cockayne Syndrome with Delayed Recovery of RNA Synthesis after Ultraviolet Irradiation but Normal Ultraviolet Survival

et al. 1987

View full text Add to dashboard Cite

ABSTRACT. We report a girl with Cockayne syndrome (CS) with atypical cellular features. We studied the ultraviolet (UV)-sensitivity of cultured fibroblast cells derived from this case and male CS siblings as positive controls. Cells from this female with CS displayed normal unscheduled DNA synthesis and repair replication capacity. However, the cells also displayed a less depressed level of RNA synthesis after UV irradiation, compared to control CS cells, and showed normal UV survival. This CS case with early onset of abnormalities had more serious clinical manifestations than the control CS siblings. These cytological results suggest that there is considerable clinical and cellular heterogeneity in CS and that cellular sensitivity to UV might not be as essential for the diagnosis of CS as previously thought. (Pediatr Res 21: 34-37, 1986)

show abstract

“…The spotty clinical, pathologic, and genetic data on the 20 published cases and ours are summarized in Tables 1 and 2. 3,6,[13][14][15][16][17][22][23][24][25][26][27][28][29][30][31] We review available information to assist further clinical-genetic correlation.…”

Section: Comparison Of This Case With Others In the Literaturementioning

confidence: 99%

“…Surprisingly, case 9, who at 19 years had reached her maximal height of 125 cm and weight of 34 kg (both at the 50th percentile for age 10 years), carried a successful pregnancy at age 23. 28 Another woman with mild Cockayne syndrome had two pregnancies terminated by cesarean sections; the first at age 17 years, with delivery at 23 weeks, was followed by neonatal death, and the second at age 18 years, carried to 34 weeks, resulted in the birth of a normal child. 49 …”

Section: Endocrine Statusmentioning

confidence: 99%

Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

et al. 2006

View full text Add to dashboard Cite

Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. This study compares the clinical course and pathology of a man with Cockayne syndrome group A who died at age 31½ years with 15 adequately documented other adults with Cockayne syndrome and 5 with xeroderma pigmentosum-Cockayne syndrome complex. Slowing of head and somatic growth was apparent before age 2 years, mental retardation and slowly progressive spasticity at 4 years, ataxia and hearing loss at 9 years, visual impairment at 14 years, typical Cockayne facies at 17 years, and cachexia and dementia in his twenties, with a retained outgoing personality. He experienced several transient right and left hemipareses and two episodes of status epilepticus following falls. Neuropathology disclosed profound microencephaly, bilateral old subdural hematomas, white-matter atrophy, tigroid leukodystrophy with string vessels, oligodendrocyte proliferation, bizarre reactive astrocytes, multifocal dystrophic calcification that was most marked in the basal ganglia, advanced atherosclerosis, mixed demyelinating and axonal neuropathy, and neurogenic muscular atrophy. Cellular degeneration of the organ of Corti, spiral and vestibular ganglia, and all chambers of the eye was severe. Rarely, and for unexplained reasons, in some patients with Cockayne syndrome the course is slower than usual, resulting in survival into adulthood. The profound dwarfing, failure of brain growth, cachexia, selectivity of tissue degeneration, and poor correlation between genotypes and phenotypes are not understood. Deficient repair of DNA can increase vulnerability to oxidative stress and play a role in the premature aging, but why patients with mutations in xeroderma pigmentosum genes present with the Cockayne syndrome phenotype is still not known.

show abstract

Cockayne syndrome

Cited by 34 publications

References 0 publications

A comprehensive description of the severity groups in Cockayne syndrome

A comprehensive description of the severity groups in Cockayne syndrome

Cockayne Syndrome with Delayed Recovery of RNA Synthesis after Ultraviolet Irradiation but Normal Ultraviolet Survival

Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

Contact Info

Product

Resources

About