@misc{DonaldTanChakrapanietal., author = {Donald, Aimee and Tan, Chong Y. and Chakrapani, Anupam and Hughes, Derralyn A. and Sharma, Reena and Cole, Duncan and Bardins, Stanislav and Gorges, Martin and Jones, Simon A. and Schneider, Erich}, title = {Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease}, series = {Orphanet journal of rare diseases : OJRD}, volume = {15}, journal = {Orphanet journal of rare diseases : OJRD}, issn = {1750-1172}, doi = {10.1186/s13023-020-01637-9}, pages = {12}, abstract = {Background: Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestations of disease are effectively treated with enzyme replacement therapy, however, molecules which cross the blood-brain barrier are still under investigation. Clinical trials of such therapeutics require robust, reproducible clinical endpoints to demonstrate efficacy and clear phenotypic definitions to identify suitable patients for inclusion in trials. The single consistent clinical feature in all patients with neuronopathic disease is the presence of a supranuclear saccadic gaze palsy, in the presence of Gaucher disease this finding serves as diagnostic of 'type 3' Gaucher disease.}, language = {en} }