Cytochrome C Oxidase Deficiency and Neuronal Involvement in Menkes' Kinky Hair Disease: Immunohistochemical Study

Marco Sparaco, Asao Hirano, Micho Hirano, Salvatore DiMauro, Eduardo Bonilla

Research output: Contribution to journalArticle

25 Scopus citations


Antibodies against subunits II and IV of cytochrome c oxidase (COX) and against complex III of the respiratory chain were used to study the expression of these proteins in the cerebellum, spinal cord, and other regions of the central nervous system in an autoptic case of Menkes' kinky hair disease (MKHD). We found a reduced expression of COX subunits in all examined areas whereas staining for complex III appeared normal. Immunostaining was altered in morphologically well‐preserved neurons, suggesting that COX deficiency may have a pathogenetic role in the neuronal degeneration of MKHD.

Original languageEnglish (US)
Pages (from-to)349-354
Number of pages6
JournalBrain Pathology
Issue number4
Publication statusPublished - Oct 1993


ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology

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