RT Journal Article
SR Electronic
T1 Gordon Holmes syndrome: finally genotype meets phenotype
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 476
OP 478
DO 10.1136/practneurol-2017-001674
VO 17
IS 6
A1 Mehmood, Shahid
A1 Hoggard, Nigel
A1 Hadjivassiliou, Marios
YR 2017
UL http://pn.bmj.com/content/17/6/476.abstract
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.