Fine structure of the cerebellar cortex in Menkes kinky hair disease. X chromosome linked copper malabsorption

A. Hirano, J. F. Llena, J. H. French, N. R. Ghatak

Research output: Contribution to journalArticle

61 Citations (Scopus)

Abstract

The kinky hair disease may more properly be referred to as X chromosome linked copper malabsorption (X cLCM), and is characterized by seizures, developmental retardation, and characteristic changes of the hair. The symptoms commence in early infancy and the patients usually die before reaching school age. The cerebellar cortices in 2 patients were examined with both the light and electron microscope. Somatic sprouts and grotesque dendritic arborization were among the obvious light microscopical changes. At the fine structural level, the Purkinje cells were characterized by the presence of somatic spines although the surviving granule cells had already descended. Most spines were parts of synaptic complexes, but some were unattached to any presynaptic element. Similar spines were also observed on dendritic trunks. Astrocytic gliosis and nonspecific endothelial cell changes were noted.

Original languageEnglish (US)
Pages (from-to)52-56
Number of pages5
JournalArchives of Neurology
Volume34
Issue number1
StatePublished - 1977

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Menkes Kinky Hair Syndrome
Cerebellar Cortex
X Chromosome
Copper
Spine
Light
Neuronal Plasticity
Gliosis
Purkinje Cells
Hair
Seizures
Endothelial Cells
Electrons
Fine Structure
Cortex
Chromosome
Cells

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Fine structure of the cerebellar cortex in Menkes kinky hair disease. X chromosome linked copper malabsorption. / Hirano, A.; Llena, J. F.; French, J. H.; Ghatak, N. R.

In: Archives of Neurology, Vol. 34, No. 1, 1977, p. 52-56.

Research output: Contribution to journalArticle

Hirano, A. ; Llena, J. F. ; French, J. H. ; Ghatak, N. R. / Fine structure of the cerebellar cortex in Menkes kinky hair disease. X chromosome linked copper malabsorption. In: Archives of Neurology. 1977 ; Vol. 34, No. 1. pp. 52-56.
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