Immunohistochemical Studies on Cerebellar Purkinje Cells of Patients with Menkes' Kinky Hair Disease

Shinsuke Kato, Masayuki Ito, Eisaku Ohama, Katsuhiko Mikoshiba, Nobuaki Maeda, Shu‐Hui ‐H Yen, Asao Hirano, Fritz Herz, Masayuki Shintaku

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Immunohistochemical investigations were carried out on cerebellar Purkinje cells of eight patients with Menkes' kinky hair disease (MD) using an antibody against the inositol 1, 4, 5‐triphosphate receptor which is identical to the cerebellar Purkinje cell glycoprotein P400 (P400/IP3R). In normal cerebellar Purkinje cells, the cell bodies, axons and dendrites including spiny branchlets were specifically stained by the antibody. By comparison, the immunoreactivity of the MD Purkinje cells ranged from negative to positive. The most frequent staining pattern in the MD Purkinje cells was that of cell bodies and proximal portions of the dendrites expressing P400/IP3R in varying degrees, with the peripheral dendrites including spiny branchlets not being stained. The Purkinje cells of the eight patients were also analyzed for expression of phosphorylated neurofilament proteins (pNFP), αB‐crystallin, stress‐response protein (srp) 72, srp 27 and ubiquitin. Most MD Purkinje cell bodies reacted with the antibody against pNFP. Although the proportion of stained Purkinje cells was less, a positive reaction was also observed with the antibodies to αB‐crystallin, srp 72 and srp 27. By contrast, no normal Purkinje cell was stained by these antibodies. Our results suggest that the function of P400/IP3R in the Purkinje cells of MD patients is impaired, that these cells have an aberrant phosphorylation of NFP and that some of the imparied Purkinje cells synthesize specific sets of stress‐related proteins.

Original languageEnglish (US)
Pages (from-to)159-166
Number of pages8
Issue number2
StatePublished - Jun 1993


  • 4
  • 5‐triphosphate receptor
  • Menkes
  • P protein
  • Purkinje cell
  • immunohistochemistry
  • inositol 1
  • kinky hair disease
  • phosphorylated neurofilament proteins
  • stress‐response proteins

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology


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