ABSTRACT
Cockayne syndrome (CS) is a genetic disease with an autosomal recessive inheritance. It is a multi-organic and progressive disease which causes developmental and cognitive delay. It is secondary to a DNA repair failure in the NER (nucleotide excision repair pathway), specific in TC-NER. It is a disorder with premature aging and short-life expectancy, with progressive degeneration in almost all the organs.
From the etiological point of view CS originates due to mutation in one of the genes, the ERCC8 and the ERCC6. They are classified in CSA and CSB. The first one is linked to ERCC8 and the second to ERCC6. CSA corresponds to a CS type I and CSB to type II. No molecular defect has yet been found in the CS type III. In the complex Cockayne–Xeroderma pigmentosum the involved genes are: XPB, XPD, and XPG.
CS patients have a very important postnatal failure to thrive and of brain growth. They also have cachexia, dementia, loss of hearing and of vision, and an important hypersensitivity to ultraviolet light. They can have several other signs and symptoms: spasticity, ataxia, peripheral neuropathy, weakness, osteopenia, joint contractures, thin, dry hair, dental caries, endocrinopathies, pigmentary retinopathy, cataracts, and their progeroid appearance.
