Gordon Holmes syndrome: finally genotype meets phenotype

  • Pract Neurol. 2017 Dec;17(6):476-478. doi: 10.1136/practneurol-2017-001674.
Shahid Mehmood  1 ,  Nigel Hoggard  1 ,  Marios Hadjivassiliou  1
Affiliations
  • 1. Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, UK.
PMID: 28972031 DOI: 10.1136/practneurol-2017-001674
Abstract

We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings. Recent genetic advances allowed the identification of the genetic defects responsible for this rather unusual combination of endocrine and neurological involvement.

Keywords
cerebellar ataxia; gordon holmes syndrome; hypogonadotropic hypogonadism.