Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: A potential role for phytanic acid and calcium in the death of its Purkinje cells

James M. Powers, Thomas P. Kenjarski, Ann B. Moser, Hugo W. Moser

Research output: Contribution to journalArticlepeer-review

Abstract

Cerebellar atrophy, consequent to the postdevelopmental degeneration and loss of Purkinje cells and granular neurons, has been identified in three patients with rhizomelic chondrodysplasia punctata (RCDP). Cerebellar atrophy in our two chronic patients was symmetrical, but the vermis and medial portions of both hemispheres, particularly the dorsal lobules, displayed more severe atrophy than the lateral hemispheres. The distal tips of folia showed the greatest neuronal loss. Residual Purkinje cells showed progressive degenerative changes that appeared to be due, in part, to their topography. The precise mode of death of Purkinje cells in RCDP has not been established, but it does not appear to be mediated by entrance into the cell cycle or by ubiquitination; however, alterations in intracellular calcium levels and mitochondria may be involved. Elevated serum/CSF phytanic acid, decreased levels of tissue plasmalogens and increased chronological age are believed to play synergistic pathogenetic roles in this lesion.

Original languageEnglish (US)
Pages (from-to)129-134
Number of pages6
JournalActa neuropathologica
Volume98
Issue number2
DOIs
StatePublished - Aug 1999

Keywords

  • Apoptosis
  • Atrophy
  • Calcium
  • Phytanic acid
  • Purkinje cell

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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