[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address Please contact the publisher to request reinstatement.
[Skip to Content Landing]
Views 519
Citations 0
Research Letter
February 2016

Expanding Phenotypic Spectrum of NKX2-1–Related Disorders—Mitochondrial and Immunologic Dysfunction

Author Affiliations
  • 1Department of Neurology, Mayo Clinic, Rochester, Minnesota
  • 2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
JAMA Neurol. 2016;73(2):237-238. doi:10.1001/jamaneurol.2015.2976

Autosomal dominant NKX2-1–related disorders present with a spectrum of manifestations that includes benign hereditary chorea, hypothyroidism, and pulmonary dysfunction (brain-lung-thyroid syndrome).1,2 Multisystem involvement varies substantially,3 likely stemming from the mutated protein’s function. NKX2-1 is a transcription factor expressed during development of the central nervous system, especially the basal ganglia and hypothalamus, thyroid, and lung.4

First Page Preview View Large
First page PDF preview
First page PDF preview