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The differential diagnosis of XP should be performed with two other syndromes caused by mutations of excision repair pathway genes: Cockayne's syndrome (CS) and Trichothiodystrophy (TTD).
Cockayne's syndrome may create confusion but pangeria is distinguished by loss and greying of hair, the lack of photosensitivity and ocular changes and the absence of disproportionately large extremities.
Unlike most other "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome, or xeroderma pigmentosum), progeria is not caused by defective DNA repair.
The reported findings included homozygous changes to the ERCC6 gene, a gene associated with Cockayne's syndrome, a rare autosomal recessive syndrome that is usually fatal in childhood.
Watson having classic Cockayne's syndrome is much less than 1%, so finding ho mozygous changes to his ERCC6 gene via genetic screening does not significantly change the disease probability.
Now, just back from Boston, she has been told she could receive a drug expected to become available early next year and which could halt the progress of the debilitating Cockayne's syndrome.
Instead, the family raised the money to take her to the US where specialists at Boston children's hospital diagnosed a rare type of Cockayne's syndrome.
But specialists in the US said she has a rare type of Cockayne's syndrome.
LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome.
Keywords: age-related disease, Cockayne's syndrome, Hutchinson-Gilford progeria, premature ageing syndromes, senescence-accelerated mouse, Werner's syndrome
Often referred to as `segmental progeroid syndromes' [2], the most widely studied of these are Hutchinson-Gilford progeria, Werner's syndrome and Cockayne's syndrome, but the group also includes Bloom's syndrome, ataxia telangiectasia and Down's syndrome.
Instead, the family raised the money to take her to America where specialists say she has a rare type of Cockayne's syndrome.