PT  - JOURNAL ARTICLE
AU  - Shahid Mehmood
AU  - Nigel Hoggard
AU  - Marios Hadjivassiliou
TI  - Gordon Holmes syndrome: finally genotype meets phenotype
AID  - 10.1136/practneurol-2017-001674
DP  - 2017 Oct 06
TA  - Practical Neurology
PG  - practneurol-2017-001674
4099  - http://pn.bmj.com/content/early/2017/10/06/practneurol-2017-001674.short
4100  - http://pn.bmj.com/content/early/2017/10/06/practneurol-2017-001674.full
AB  - 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.