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Neuropediatrics 1995; 26(2): 114-118
DOI: 10.1055/s-2007-979739
Neuropathology

© Hippokrates Verlag GmbH Stuttgart

Preliminary Evidence for Neurodegenerative Changes in the Substantia Nigra of Rett Syndrome

C. A. Kitt, B. J. Wilcox
  • Department of Pathology and Neuropathology Laboratory (CAK), The Johns Hopkins University School of Medicine, Baltimore, Maryland, and the U.S. Food & Drug Administration, Center for Biologies, Evaluation and Research, Division of Cytokine Biology, Rockville, Maryland
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Publication History

Publication Date:
19 April 2007 (online)

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Abstract

Rett syndrome (RS), which affects ~ 1 in 10,000 young females, is characterized by cognitive deterioration, ataxia, apraxia, rigidity, and stereotyped hand movements.

Neuropathological features include reduction in brain size and hypopigmentation of neurons of the substantia nigra pars compacta (SNpc). Neurochemical and imaging studies support 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 bodies, decreased immunostaining for transmitter markers, and evidence of cell death using terminal deoxynucleotidyl transferase (TDT) -mediated dUTP-biotin nick end labeling (TUNEL), which labels fragmented intranucleosomal DNA. These preliminary data represent the first evidence for cell death in RS.

Key words

Rett syndrome - Neuropathology - Substantia nigra

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