Abstract
Apoptotic cell death was examined in autopsied brains with Werdnig Hoffmann disease, hereditary DNA repair disorders (xeroderma pigmentosum and Cockayne syndrome) and neuronal ceroid lipofuscinosis, using in situ nick end labeling (TUNEL) and immunohistochemistry for cell death-related proteins. TUNELpositive cells were found in the thalamus, cerebellum and/or hippocampus in each disorder. The expression of cell death-related proteins in the cerebellum of hereditary DNA repair disorders and the hippocampus of neuronal ceroid-lipofuscinosis suggested the involvement of apoptotic process in neurodegeneration in these disorders. On the other hand, TUNEL-reactivity without the altered expression of cell death-related proteins might reflect neuronal changes preceding the thalamic degeneration in Werdnig-Hoffmann disease.
