Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series

Metab Brain Dis. 2021 Oct;36(7):2131-2139. doi: 10.1007/s11011-021-00790-9. Epub 2021 Jul 21.


Cerebral calcification may be caused by several potentially treatable conditions, however, in most cases it does not receive special attention in clinical practice. From the point of view of etiology, the diseases associated with cerebral calcification can be divided into two main groups: idiopathic (mostly incurable) and secondary (potentially treatable). The first group includes mainly the hereditary diseases identified before 2021 (primary familial brain calcification subtypes, previously known as Fahr's disease or Fahr's syndrome). In contrast, the second group includes diseases with cerebral calcification that develop generally as a consequence of metabolic/endocrine/autoimmune abnormalities. The aim of our research was to present hereditary and non-hereditary etiologies associated with extensive brain calcification. We compare the detailed clinical, radiological and laboratory results of 6 patients with prominent cerebral calcification identified in our clinic in the last 3 years (idiopathic and secondary etiologies as well). Our research draws attention to the complexity of the etiologies in the context of cerebral calcification. We recommend, beside NGS-based sequence analyses, the application of array comparative genomic hybridization as well, to identify potential genetic etiologies associated with brain calcification.

Keywords: Brain calcification; Fahr’s syndrome; Genetic; Idiopathic basal ganglia calcification; Mosaicism; Primary familial brain calcification.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Basal Ganglia Diseases*
  • Brain / diagnostic imaging
  • Calcinosis* / complications
  • Calcinosis* / diagnostic imaging
  • Calcinosis* / genetics
  • Comparative Genomic Hybridization
  • Humans
  • Neurodegenerative Diseases*