Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression

Abstract

Familial idiopathic basal ganglia calcification (FIBGC) is a rare, heritable disease characterized by calcium deposition in the basal ganglia and other brain regions. Clinical presentations are diverse, featuring an array of neurologic, psychiatric, and/or cognitive symptoms. This dyad report presents neurogenetic, neuroimaging, neurological, and serial neuropsychological data from a father (S1) and son (S2) with FIBGC.

Document Details

Document Type
Pub Defense Publication
Publication Date
Apr 23, 2021
Source ID
10.1093/arclin/acab026

Entities

People

  • Dong-hui Chen
  • Emily H. Trittschuh
  • Evan Zahniser
  • Shu-ching Hu
  • Thomas D. Bird
  • Wendy H Raskind

Organizations

  • National Institutes of Health
  • United States Department of Defense

Tags

Fields of Study

  • Medicine
  • Psychology

Readers

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  • Molecular and Cellular Biology
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