The Diagnostics Dashboard provides a quick-access overview of diagnostic methods and tools for neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, Multiple System Atrophy, Progressive Supranuclear Palsy, and Corticobasal Syndrome. This page serves as a central hub for navigating biomarker assays, neuroimaging techniques, clinical assessment scales, genetic testing, and emerging diagnostic technologies. Rapid and accurate diagnosis is critical for disease-modifying therapy development, patient stratification, and clinical trial enrollment.
| Metric | Value |
|---|---|
| Total Diagnostic Pages | 26 |
| Neuroimaging Methods | 5 |
| Biomarker Assays | 6 |
| Clinical Scales | 3 |
| Genetic Tests | 2 |
The 2018 NIA-AA research framework defines Alzheimer's disease by biomarkers rather than clinical syndrome[1]. The AT(N) system classifies biomarkers into three categories:
Biomarker profiles:
| Profile | A | T | (N) | Interpretation |
|---|---|---|---|---|
| A-T-N- | - | - | - | Normal AD biomarkers |
| A+T-N- | + | - | - | Alzheimer's pathologic change |
| A+T+(N) | + | + | - | Alzheimer's disease (non-specific) |
| A+T+N+ | + | + | + | Alzheimer's disease with neurodegeneration |
This framework enables diagnosis in the prodromal stage, before dementia onset, enabling disease-modifying intervention[2].
The 2015 International Parkinson and Movement Disorders Society (MDS) criteria provide the current standard for PD diagnosis[3]:
Core clinical features:
Supportive criteria:
Red flags (against diagnosis):
Second consensus criteria from 2008 define probable and possible MSA[4]:
MSA-P (parkinsonian predominant):
MSA-C (cerebellar predominant):
Key autonomic features:
The 2017 MDS-PSP criteria define multiple variants[5]:
| Variant | Core Features | Typical Features |
|---|---|---|
| Richardson's syndrome | Vertical supranuclear gaze palsy, postural instability | Early falls, dysarthria |
| PSP-parkinsonism | Bradykinesia, rigidity | Asymmetric onset, tremor |
| PSP-pure akinesia with gait freezing | Gait freezing, start hesitation | No tremor or gaze palsy |
| PSP-cortical | Cortical dysfunction | Apraxia, alien limb |
The Armstrong criteria (2013) provide diagnostic levels[6]:
Probable CBS:
Possible CBS:
| Modality | Key Application | Strength |
|---|---|---|
| MRI | Structural imaging, atrophy patterns | High resolution, no radiation |
| PET Imaging | Molecular pathology | Functional, amyloid/tau detection |
| DaT-SPECT | Dopaminergic terminal integrity | Differentiates PD from essential tremor |
| CT | Gross structural changes | Fast, widely available |
| Diffusion Tensor Imaging | White matter microstructural integrity | Detects early axonal damage |
MRI Techniques by Use Case:
| Biomarker Source | Key Analytes | Disease Relevance |
|---|---|---|
| CSF Biomarkers | Aβ42, Aβ40, p-tau, t-tau, NfL, alpha-synuclein | AD, PD, MSA, ALS |
| Blood-Based Biomarkers | Plasma NfL, p-tau217, GFAP | Accessible, emerging |
| NfL | Neurofilament light chain | Neurodegeneration, progression |
| Alpha-Synuclein Assays | RT-QuIC, PMCA seeding activity | Synucleinopathies |
Emerging Blood Biomarkers (2025-2026):
| Domain | Scales | Primary Use |
|---|---|---|
| Cognitive Scales | MMSE, MoCA, CDR, ADAS-Cog | Cognitive impairment staging |
| Motor Scales | UPDRS, MDS-UPDRS, H&Y, BBS | PD motor severity |
| Functional Assessments | ADL, iADL, Schwab & England | Daily living function |
| Neuropsychiatric | NPI, GDS, BDI | Behavioral symptoms |
| Autonomic | COMPASS-31, SCHAF | Autonomic dysfunction |
| Gene | Disease | Test Type | Clinical Utility |
|---|---|---|---|
| APOE | AD | SNP genotyping | Risk stratification |
| SNCA | PD, MSA | Gene dosage | Rare, high penetrance |
| LRRK2 | PD | NGS panel | 5% of PD, autosomal dominant |
| GBA | PD, DLB | Sequencing | 5-10% of PD, risk modifier |
| MAPT | PSP, CBD, FTD | NGS panel | Tauopathies |
| C9orf72 | ALS, FTD | Repeat PCR | Most common ALS gene |
| Genetic Panels | Multiple | Multi-gene panels | Comprehensive screening |
| Diagnostic Tool | Target | Status |
|---|---|---|
| Amyloid PET (Florbetapir, Florbetaben) | Amyloid plaques | FDA-approved |
| Tau PET (Flortaucipir) | Neurofibrillary tangles | FDA-approved |
| CSF Aβ42/40 ratio | Amyloid pathology | Widely available |
| CSF p-tau181/217 | Tau pathology | Widely available |
| Blood p-tau217 | Tau pathology | Clinical implementation |
| MRI hippocampal volumetry | Neurodegeneration | Standard of care |
| FDG-PET | Hypometabolism | Supporting evidence |
| Diagnostic Tool | Target | Status |
|---|---|---|
| DaT-SPECT (Ioflupane) | Dopamine transporter | FDA-approved |
| Cardiac MIBG | Sympathetic denervation | Clinical use |
| Alpha-Synuclein RT-QuIC | Seed amplification | FDA-approved |
| MRI neuromelanin | Nigral integrity | Research |
| Transcranial sonography | Substantia nigra echogenicity | Research |
| Diagnostic Tool | Target | Status |
|---|---|---|
| Neurofilament Testing (NfL, pNfH) | Neurodegeneration | Standard of care |
| Genetic Panels (C9orf72, SOD1, FUS, TARDBP) | Genetic cause | Widely available |
| EMG/ Nerve Conduction | Lower motor neuron | Standard of care |
| Transcranial Magnetic Stimulation | Upper motor neuron | Research |
Machine learning and deep learning approaches applied to neuroimaging and clinical data:
Objective, continuous measurement through smartphone and wearable sensors:
Combining multiple modalities for synergistic information:
The most significant advance in neurodegenerative diagnostics (2020-2026):
AT(N) biomarker classification for in vivo Alzheimer disease staging. Lancet Neurology. 2022. ↩︎
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimer's & Dementia. 2011. ↩︎
MDS clinical diagnostic criteria for Parkinson's disease. Movement Disorders. 2015. ↩︎
Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008. ↩︎
Diagnostic criteria for progressive supranuclear palsy: a systematic review. Movement Disorders. 2021. ↩︎
Clinical诊断 criteria for corticobasal syndrome: a multicenter study. Movement Disorders. 2013. ↩︎
Neurofilament light chain as a biomarker in neurodegenerative disease. Nature Reviews Neurology. 2022. ↩︎