Severe vascular disturbance in a case of familial brain calcinosis

Judit Miklossy, Ian R. Mackenzie, Katerina Dorovini-Zis, Donald B. Calne, Zbigniew K. Wszolek, Andis Klegeris, Patrick L. McGeer

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

Here we present the first neuropathological study of a case of autosomal dominant brain calcinosis in a family followed through five generations. The 71-year-old female who came to autopsy had unusually severe and extensive bilateral brain calcifications. The process appeared to start with deposition of minute calcium-positive spheroids of less than 1 μm in diameter in capillaries that otherwise appeared normal. These could be observed extending to areas distant from the main pathology. In more advanced stages, larger spheroids completely covered some capillaries while sparing others. In heavily affected regions, ghost capillaries were observed where only calcium spheroids remained after endothelial cells and basement membranes had disappeared. Vessels of all sizes were affected, and large accretions were observed in the basal ganglia, thalamus and cerebellum. Combined scanning electron microscopy and X-ray spectrometry of these large deposits revealed a dominant presence of calcium and phosphorous, plus carbon and oxygen indicative of organic material, and small amounts of sodium, potassium, sulfur, and magnesium. Reactive astrocytes and reactive microglia accumulated around the calcified deposits, indicating a mild ongoing inflammatory process. The results suggest that severe vascular impairment and mild inflammation contribute to the slow but inexorable progression of hereditary brain calcinosis.

Original languageEnglish (US)
Pages (from-to)643-653
Number of pages11
JournalActa neuropathologica
Volume109
Issue number6
DOIs
StatePublished - Jun 1 2005

Keywords

  • Capillaries
  • Dystonia
  • Fahr's disease
  • Gallyas staining
  • Inflammation

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of 'Severe vascular disturbance in a case of familial brain calcinosis'. Together they form a unique fingerprint.

Cite this