Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Neurodegeneration

Progressive loss of neural cells and tissue.


Total: 2

                       


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PMID (PMCID)
29944916
 MALE Infant
Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses.
Sanchez-Roman I, Lautrup S, Aamann MD, Neilan EG, Ostergaard JR, Stevnsner T.
Mech Ageing Dev. 2018;175:7-16.
Cockayne Syndrome (CS) is a rare autosomal recessive disorder, which leads to neurodegeneration, growth failure and premature aging.
19647012
 MIXED_SAMPLE Child
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration.
Weidenheim KM, Dickson DW, Rapin I.
Mech Ageing Dev. 2009;130(9):619-36.
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration.