Ca. Kitt et Bj. Wilcox, PRELIMINARY EVIDENCE FOR NEURODEGENERATIVE CHANGES IN THE SUBSTANTIA-NIGRA OF RETT-SYNDROME, Neuropediatrics, 26(2), 1995, pp. 114-118
Rett syndrome (RS), which affects similar to 1 in 10,000 young females
, is characterized by cognitive deterioration, ataxia, apraxia, rigidi
ty, and stereotyped hand movements. Neuropathological features include
reduction in brain size and hypopigmentation of neurons of the substa
ntia nigra pars compacta (SNpc). Neurochemical and imaging studies sup
port nigrostriatal involvement. The results of our preliminary studies
show abnormalities in neurons of the substantia nigra (SN), including
decreased numbers of neurons, ubiquitin-stained neuronal inclusion bo
dies, decreased immunostaining for transmitter markers, and evidence o
f cell death using terminal deoxynucleotidyl transferase (TDT)-mediate
d dUTP-biotin nick end labeling (TUNEL), which labels fragmented intra
nucleosomal DNA. These preliminary data represent the first evidence f
or cell death in RS.