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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

  • 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.

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Author: Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones, Erich Schneider
URL:https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01637-9
DOI:https://doi.org/10.1186/s13023-020-01637-9
ISSN:1750-1172
Title of the source (English):Orphanet journal of rare diseases : OJRD
Document Type:Scientific journal article peer-reviewed
Language:English
Year of publication:2020
Volume/Year:15
Number of pages:12
Article number:349
Faculty/Chair:Fakultät 1 MINT - Mathematik, Informatik, Physik, Elektro- und Informationstechnik / FG Medizinische Informationssysteme
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