Insights into mechanisms and therapeutic avenues for primary familial brain calcification

Neuron. 2024 Oct 9;112(19):3223-3225. doi: 10.1016/j.neuron.2024.09.019.

Abstract

The diverse etiologies of the genetic neurodegenerative disorder known as primary familial brain calcification have dimmed hopes for curative therapies. However, two new papers in Neuron1,2 provide a reason for optimism by identifying mechanisms involved in brain phosphate transport and a promising target for restoring phosphate balance in the brain.

MeSH terms

  • Animals
  • Brain / metabolism
  • Brain / pathology
  • Brain Diseases / genetics
  • Brain Diseases / metabolism
  • Brain Diseases / therapy
  • Calcinosis* / genetics
  • Calcinosis* / metabolism
  • Humans
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / therapy
  • Phosphates / metabolism
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics
  • Sodium-Phosphate Cotransporter Proteins, Type III / metabolism

Substances

  • Phosphates
  • Sodium-Phosphate Cotransporter Proteins, Type III