Can We Use Clinical Presentation and Genetics to Correctly Diagnose Parkinson Disease?

Interest in developing inexpensive and noninvasive methods to diagnose Parkinson disease (PD) is growing. These authors created a model using Michael J. Fox Parkinson's Progression Marker Initiative data, which included 367 patients diagnosed with PD who had a dopamine transporter scan (DAT) suggestive of PD and 165 controls without neurological diagnoses. The model employed smell testing, genetic risk, family history, age, and gender. The researchers validated the model in five large independent cohorts. They also applied the model to cases where the clinical diagnosis was suggestive of PD, but the DAT scans revealed no evidence of dopaminergic deficit (SWEDD).

In the original cohort, the model's area under the curve for discriminating betw…