TY - GEN A1 - Donald, Aimee A1 - Tan, Chong Y. A1 - Chakrapani, Anupam A1 - Hughes, Derralyn A. A1 - Sharma, Reena A1 - Cole, Duncan A1 - Bardins, Stanislav A1 - Gorges, Martin A1 - Jones, Simon A. A1 - Schneider, Erich T1 - Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease T2 - Orphanet journal of rare diseases : OJRD N2 - 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. Y1 - 2020 UR - https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01637-9 U6 - https://doi.org/10.1186/s13023-020-01637-9 SN - 1750-1172 VL - 15 ER -