Biomarkers & diagnosis
Alpha-synuclein seeding amplification assays, neurofilament light, DAT-SPECT imaging, smell testing and other diagnostic tools.
In this category
State of the art
No update yet for Biomarkers & diagnosis. An update is a standalone state-of-the-art for the topic — what someone with Parkinson's needs to know about where this approach stands today.
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Levodopa increases substantia nigra iron: implications for Parkinson's disease DAT-SPECT imaging
The research adds to the rationale for using iron-sensitive MRI (quantitative susceptibility mapping) alongside functional imaging to monitor nigral integrity and the effects of treatment — a potential future clinical tool. -
Superior dorsal nigral hyperintensity depiction at 7 T MRI using CLEAR-DESS improves diagnosis performance of Parkinson’s disease MRI neuroimaging
A prospective study of 33 PD patients and 52 healthy controls at 7T MRI found that the CLEAR-DESS sequence detected the loss of dorsal nigral hyperintensity with sensitivity of 85–96% and specificity of 88–94%, substantially outperforming the standard SWI sequence (sensitivity 65–70%, specificity 74–89%). At the whole-patient level, CLEAR-DESS specificity reached up to 100% vs 60–79% for SWI. The study establishes CLEAR-DESS as a candidate preferred sequence for 7T MRI-based PD diagnosis. -
Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review
A key practical message of this MDS SIC expert review is that co-pathologies can confound biomarker readings: alpha-synuclein seed-amplification assays, amyloid PET, DAT-SPECT, and blood-based markers can all be affected by concurrent Alzheimer or vascular pathology, making single-biomarker diagnostic strategies unreliable in the large proportion of PD patients who carry co-pathologies — the review argues for multi-modal biomarker approaches. -
Cerebellar Network Compensation in Parkinsons Disease: Functional Connectivity Across Motor and Cognitive Circuits
The study positions resting-state cerebellar functional connectivity — specifically Crus I–motor cortex coupling and its relationship to disease duration — as a candidate neuroimaging biomarker of cognitive trajectory in PD. This differs from existing biomarker approaches (blood markers, DAT-SPECT, seed-amplification assays) and opens a network-imaging direction for tracking compensatory capacity and predicting cognitive decline, pending longitudinal validation. -
PD GENEration: An International Parkinson's Disease Genetic Research Study
This large observational study demonstrates that 9% of people with Parkinson's who have none of the traditional high-risk flags (early onset, affected first-degree relative, high-risk ancestry) still carry a disease-linked genetic variant, directly challenging the clinical practice of restricting genetic testing to high-risk subgroups. The move to whole-genome sequencing further expands what a single diagnostic test can reveal, including secondary health findings unrelated to Parkinson's. -
A Comparative Evaluation of Structural MRI Foundation Models for Brain Age Regression and Sex Classification
This benchmarking study compared AI "foundation models" for reading structural MRI scans, evaluating how accurately they estimate brain age — a candidate marker for tracking neurodegeneration. No single model was consistently best, and well-tuned traditional models remained competitive, which is important context for researchers developing MRI-based diagnostic and progression tools for Parkinson's. -
Myelin damage in donor skin differentiates between synucleinopathies Skin biopsy biomarkers
This post-mortem study of 46 neuropathologically confirmed donors demonstrates that a myelin damage score — derived from electron microscopy of nerve fibers in neck skin biopsies — is significantly higher in PD than in MSA or controls, suggesting that peripheral nerve myelin ultrastructure could serve as a future tissue-based classifier to distinguish synucleinopathies. The work adds a structural (architectural) layer to skin-biopsy biomarker research alongside existing protein-based approaches such as alpha-synuclein seed amplification. -
Démence à corps de Lewy : voici pourquoi elle est confondue avec Parkinson et Alzheimer (et ce que ça change) - Cap Retraite DAT-SPECT imaging
The article points to DaTSCAN (an imaging technique measuring dopamine-transporter function at synapses) as one of the tools neurologists use to distinguish LBD from Alzheimer's — relevant for Parkinson's patients whose diagnosis may need re-evaluation when prominent hallucinations or fluctuating cognition emerge. -
Multi-locus genetic dosage shapes cognitive disease progression in Parkinson’s patients: 15-year meta-analysis of 24 cohorts Genetic risk scores
This paper proposes a five-locus genetic dosage score — counting variants across GBA1, APOE e4, RIMS2, TMEM108, and WWOX — as a prognostic stratification tool for PD dementia risk. Validated across 24 cohorts, the score produces a monotonic, near-exponential risk gradient that could serve as a patient-enrichment biomarker for future dementia-prevention trials; it is not yet a clinical test but represents a concrete, large-scale proof-of-concept. -
Daily‐Life, Sensor‐Derived Tremor Measures Are Sensitive to Progression in Early Parkinson's Disease Digital biomarkers
This two-year observational study of 540 early-PD participants (Personalized Parkinson Project) showed that continuous wrist-sensor measures of tremor time and tremor power were substantially more sensitive to disease progression than annual MDS-UPDRS clinical scores, particularly in unmedicated patients — the largest and longest real-world validation of wearable tremor monitoring in PD to date. -
Prebiotics balance gut bacteria and show results in Parkinson’s blood Blood biomarkers
Researchers identified a 16-protein signature in blood-derived extracellular vesicles — tiny particles that cross the gut-brain barrier — that could distinguish Parkinson's patients from healthy adults and correlate with disease severity, offering a potential noninvasive method to monitor gut-targeted therapies; findings require validation in larger cohorts. -
Allergic disease as a risk factor for Parkinson’s disease: a possible role of eosinophil
PD patients in this study had significantly higher eosinophil counts, elevated eosinophil-to-neutrophil ratios, and more frequent eosinophilia compared to matched controls, suggesting that eosinophil levels in routine blood tests could eventually serve as an accessible inflammatory biomarker relevant to PD risk or disease state. -
Parkinson's Disease.
The article highlights the alpha-synuclein seed amplification assay (αSyn-SAA) as a major diagnostic advance, able to detect pathological alpha-synuclein in cerebrospinal fluid and other accessible samples with high accuracy even in prodromal individuals. It also describes a new Movement Disorder Society biological staging framework that classifies Parkinson's by underlying biology rather than symptom severity alone, analogous to oncology staging.