This sensitive, rapid and highly accurate assay offers a less invasive mechanism for initial diagnosis of Parkinson’s disease. This would facilitate early intervention and implementation of an appropriate care package.
Diagnosis of Parkinson’s disease, which affects 4 million people worldwide, is difficult and inaccurate as there are no standard laboratory tests to diagnose Parkinson’s disease. Diagnosis is currently made via a combination of signs, symptoms and family history, in addition to brain scan techniques attempting to rule out differential diagnosis. As a result, by the time diagnosis is made, the disease has often progressed to a level whereby over 60% of dopaminergic neurons in key regions of the basal ganglia have been lost.
Although Parkinson’s disease is associated with the deposition of α-synuclein, and its use as a biomarker has been previously proposed, the results have been inconsistent. This technology makes use of zirconium/silica beads in a standard RT-QuIC assay to facilitate the reaction of flurophores that bind to α-synuclein aggregates from patient samples. This assay can detect α -synuclein aggregation in cerebrospinal fluids (CSF) with sensitivities of up to 95% and accuracy of 100% with respect to Parkinson’s so may be suitable as an initial test for accurate and rapid diagnosis or dementia differential diagnosis.
This assay can detect α-synuclein aggregation in dementia with Lewy bodies (DLB) and Parkinson’s CSF, with sensitivities of 92% and 95%, respectively, and with an overall specificity of 100% when compared to Alzheimer and control CSF. A total of 99 patient CSF samples were utilized for the study. Patients with neuropathologically confirmed tauopathies gave negative results. A study is currently underway to test the applicability of this test using blood samples in place of CSF.
Development Status: Early stage laboratory data / Comprehensive in vitro analysis
UK priority patent filed in July 2016.
Publication: Fairfoul D et al. Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies. Ann. Clin. Trans. Neuro 2016.
The University of Edinburgh is seeking commercial partners to license this technology and/or collaborate on further development of the technology for commercial use.