Early and Accurate Diagnosis of Parkinson Disease May Be Rooted in Seed Amplification Assays

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Abstract
Parkinson disease (PD) is the second-most common neurodegenerative disease worldwide. The gold standard diagnosis is the presence of bradykinesia plus tremor or muscular rigidity along with symptomatic improvement when taking levodopa, a precursor to the neurotransmitter dopamine. The classic, yet not universal, pathologic hallmark of PD is the loss of dopamine-producing neurons in the midbrain associated with Lewy bodies, intraneuronal aggregates of misfolded alpha-synuclein (aSyn). While advanced imaging techniques to measure dopamine transporter binding can support the diagnosis of PD, these tests are nonspecific and can be abnormal in other disorders of dopamine dysfunction unrelated to neuronal aSyn pathology. Despite recognition that clinical symptoms, like hyposmia and rapid eye movement sleep behavior disorder (RBD), and certain gene variants, including GBA or LRRK2, predict increased risk of PD development, aSyn-specific biomarkers measurable during life have remained elusive until recently. Adapted from the diagnosis of prion diseases, seed amplification assays (SAA), including real time quaking-induced conversion based on serial shaking or protein misfolding cyclic amplification based on serial sonication, show promise as tests for an in vivo aSyn biomarker ( 1).
Funding Information
  • National Institutes of Health
  • Parkinson Foundation
  • Michael J. Fox Foundation
  • National Institute of Neurological Disorders and Stroke

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