| Biomarker | poly(GP) | Full name | Polyglycylproline | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Disease Monitoring, Pathological Confirmation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | C9orf72 Mutation Carriers | ||
| Organ | Brain | Test Sample / Technology Platform | CSF (ELISA, Targeted Mass Spectrometry) | ||
| Pathobiological Mechanisms | RAN translation product of C9orf72 repeat expansion, deposition causes oxidative stress and inflammation. | ||||
| Clinical Availability Status | Research validation stage | ||||
| Notes and Dynamics | CSF poly(GP) in symptomatic carriers is 2.8 times higher than in asymptomatic individuals, serving as an efficacy endpoint for antisense oligonucleotide therapy. | ||||
| Biomarker | TDP-43 Agg | Full name | TDP-43 Protein Aggregation (Phosphorylated/Truncated Form) | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Diagnosis |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Skin Biopsy/Brain Biopsy (Western Blot, RT-QuIC, IP-MS) | ||
| Pathobiological Mechanisms | Cytoplasmic aggregation forms inclusions, inhibits RNA metabolism, and induces neuronal apoptosis. | ||||
| Clinical Availability Status | Research stage (under clinical translation) | ||||
| Notes and Dynamics | 95% of FTD-TDP have this pathology; RT-QuIC detection has a sensitivity of 89% and specificity of 98%; the positive rate of skin biopsy is 72% in patients with disease duration <2 years. | ||||
| Biomarker | FT3 | Full name | Free triiodothyronine | Molecular Type | hormone |
| Molecular Formula | C₁₅H₁₁I₃NNaO₄ | Molecular Weight | 650.97 | Core Functional Dimensions | Diagnosis, Monitoring |
| Disease(or Constitution) | Thyroid Dysfunction | Disease Subtypes | Primary hyperthyroidism | ||
| Organ | Thyroid | Test Sample / Technology Platform | Serum (chemiluminescence method, radioimmunity analysis method) | ||
| Pathobiological Mechanisms | Excessive thyroid hormone synthesis and release, hypermetabolism | ||||
| Clinical Availability Status | Diagnostic core index (> 6.8 pmol/L), graves disease increased the more significant | ||||
| Notes and Dynamics | / FT3 FT4 higher ratio of hyperthyroidism classification has a reference value | ||||
| Biomarker | NfL | Full name | Neurofilament Light Chain | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis, Disease Monitoring |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (SIMOA, ELISA, Luminex) | ||
| Pathobiological Mechanisms | Released after neuronal axonal injury, reflecting the degree of pan-neurodegeneration, positively correlated with gray matter atrophy rate. | ||||
| Clinical Availability Status | Under clinical validation (used in some centers) | ||||
| Notes and Dynamics | Plasma NfL >25pg/mL indicates accelerated progression; levels in bvFTD are higher than in svPPA; combined with MRI the diagnostic accuracy is 89%. | ||||
| Biomarker | FUS Mut (R521C) | Full name | Fused in Sarcoma Mutants (R521C) | Molecular Type | Nucleic Acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Subtype Differentiation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | Behavioral Variant FTD (bvFTD) | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, WB) | ||
| Pathobiological Mechanisms | Mutations cause FUS misfolding, cytoplasmic aggregation, and inhibit autophagic clearance. | ||||
| Clinical Availability Status | Research stage | ||||
| Notes and Dynamics | Early onset (<45 years old) is predominant, accompanied by rapid frontotemporal gray matter atrophy; CSF FUS reflects disease activity. | ||||
| Biomarker | TARDBP Mut | Full name | TAR DNA-Binding Protein 43 Mutants | Molecular Type | Nucleic Acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Etiological Confirmation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | Behavioral Variant FTD (bvFTD) | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, Immunofluorescence) | ||
| Pathobiological Mechanisms | Mutations cause abnormal TDP-43 nuclear localization, cytoplasmic aggregation forms inclusions, and interferes with RNA splicing. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Mutants mostly present as bvFTD, 45% have bulbar onset; CSF pTDP-43 is positively correlated with mutation load. | ||||
| Biomarker | TSH | Full name | Thyroid stimulating hormone | Molecular Type | hormone |
| Molecular Formula | Macromolecule | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Monitoring |
| Disease(or Constitution) | Thyroid Dysfunction | Disease Subtypes | Primary hyperthyroidism | ||
| Organ | Thyroid/Pituitary | Test Sample / Technology Platform | Serum (chemiluminescence immunoassay, ELISA) | ||
| Pathobiological Mechanisms | Thyroid hormone is oversecreted, and negative feedback inhibits pituitary TSH release | ||||
| Clinical Availability Status | Diagnostic core index (< 0.1 mIU/L), joint FT3 FT4 / confirmed | ||||
| Notes and Dynamics | Very low levels suggest a high possibility of Graves' disease | ||||
| Biomarker | GRN Mut | Full name | Progranulin Mutants | Molecular Type | Nucleic Acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Etiological Confirmation, Disease Monitoring |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | Semantic Variant PPA (svPPA), Right Temporal Variant FTD (rtvFTD) | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, PCR) | ||
| Pathobiological Mechanisms | Mutations cause progranulin haploinsufficiency, inhibit microglial phagocytosis, and enhance neuroinflammation. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | Plasma progranulin <15ng/mL suggests mutation, closely associated with svPPA and rtvFTD; anti-sortilin monoclonal antibodies can increase its levels. | ||||
| Biomarker | MAPT Mut | Full name | Microtubule-Associated Protein Tau Mutants (R406W, V337M) | Molecular Type | Nucleic Acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Subtype Differentiation, Etiological Confirmation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | Behavioral Variant FTD (bvFTD), Non-Fluent Variant PPA (nfvPPA) | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, Sanger Sequencing) | ||
| Pathobiological Mechanisms | Mutations cause abnormal tau phosphorylation, form neurofibrillary tangles, and disrupt microtubule stability. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | Mostly presents as bvFTD or nfvPPA, common in early onset (<50 years old); tau PET can visualize intracerebral tau aggregation. | ||||
| Biomarker | C9orf72 (G₄C₂) RE | Full name | C9orf72 Hexanucleotide (G₄C₂) Repeat Expansion | Molecular Type | Nucleic Acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Subtype Differentiation, Etiological Confirmation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | Behavioral Variant FTD (bvFTD), Semantic Variant PPA (svPPA), Non-Fluent Variant PPA (nfvPPA) | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Long-Read Gene Sequencing, PCR, Digital PCR) | ||
| Pathobiological Mechanisms | Repeat expansion in the non-coding region produces toxic dipeptide repeat proteins such as poly(GP) through RAN translation, induces TDP-43 aggregation, and activates neuroinflammation. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | Accounts for 40% of familial FTD; CSF poly(GP) in carriers is 3.2 times higher than in healthy individuals, detectable 10 years in advance. | ||||
| Biomarker | SCFAs | Full name | Short-Chain Fatty Acids (Acetate, Propionate, Butyrate) | Molecular Type | Microorganism (Bacterium) |
| Molecular Formula | C2H4O2/C3H6O2/C4H8O2 | Molecular Weight | 60.05/74.08/88.11 g/mol | Core Functional Dimensions | Susceptibility, Monitoring |
| Disease(or Constitution) | Multiple Sclerosis | Disease Subtypes | MS-Associated Gut Microbiota Dysbiosis | ||
| Organ | Brain | Test Sample / Technology Platform | Serum / Feces (GC-MS) | ||
| Pathobiological Mechanisms | Intestinal microbiota fermentation products, regulate immune cell differentiation; decreased levels weaken anti-inflammatory effects and blood-brain barrier stability. | ||||
| Clinical Availability Status | Cutting-edge research: Acetate and propionate levels are decreased in MS patients, negatively correlated with NfL levels. | ||||
| Notes and Dynamics | Can be increased through dietary fiber intervention, a potential target for dietary adjuvant therapy. | ||||
| Biomarker | Akkermansia muciniphila | Full name | Akkermansia muciniphila | Molecular Type | Microorganism (Bacterium) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Susceptibility, Monitoring |
| Disease(or Constitution) | Multiple Sclerosis | Disease Subtypes | MS-Associated Gut Microbiota Dysbiosis | ||
| Organ | Brain | Test Sample / Technology Platform | Feces (16S rRNA Sequencing) | ||
| Pathobiological Mechanisms | Regulates intestinal barrier integrity and immune balance; decreased abundance leads to lipopolysaccharide leakage, aggravating systemic inflammation. | ||||
| Clinical Availability Status | Cutting-edge research: Abundance is significantly lower in MS patients than in healthy individuals, associated with Th17/Treg imbalance. | ||||
| Notes and Dynamics | Probiotic supplementation can increase its abundance; related clinical trials are exploring the therapeutic potential of gut microbiota intervention. | ||||
| Biomarker | Exo miR-126 | Full name | Exosomal MicroRNA-126 | Molecular Type | Non-coding RNA (miRNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Monitoring, Prognosis |
| Disease(or Constitution) | Multiple Sclerosis | Disease Subtypes | Common MS Biomarkers | ||
| Organ | Brain | Test Sample / Technology Platform | Serum / Urine (RT-qPCR) | ||
| Pathobiological Mechanisms | Regulates vascular endothelial function and insulin signaling, decreased levels exacerbate blood-brain barrier injury and inflammatory infiltration. | ||||
| Clinical Availability Status | Cutting-edge research: Positively correlated with MRI lesion load, a potential hotspot for non-invasive monitoring. | ||||
| Notes and Dynamics | Can be detected through liquid biopsy, avoiding repeated MRI, suitable for long-term follow-up. | ||||
| Biomarker | FT4 | Full name | Free thyroxine | Molecular Type | Hormones |
| Molecular Formula | C₁₅H₁₀I₄NNaO₄ | Molecular Weight | 776.87 | Core Functional Dimensions | Diagnosis, Monitoring |
| Disease(or Constitution) | Thyroid Dysfunction | Disease Subtypes | Primary hypothyroidism | ||
| Organ | Thyroid | Test Sample / Technology Platform | Serum (chemiluminescence, Radioimmunoassay) | ||
| Pathobiological Mechanisms | Thyroid follicular cells are damaged and thyroid hormone synthesis and release are reduced | ||||
| Clinical Availability Status | The core diagnostic index (<12 pmol/L) was used to reflect the thyroid function | ||||
| Notes and Dynamics | Low T4 syndrome should be excluded | ||||
| Biomarker | CSF KFLC Index | Full name | Cerebrospinal Fluid Kappa Free Light Chain Index | Molecular Type | Protein (Immunoglobulin Fragment) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Multiple Sclerosis | Disease Subtypes | Common MS Biomarkers | ||
| Organ | Brain | Test Sample / Technology Platform | CSF (Immunoturbidimetry) | ||
| Pathobiological Mechanisms | Reflects intrathecal immunoglobulin synthesis, with sensitivity comparable to OCBs, and more convenient detection. | ||||
| Clinical Availability Status | Research validation / early clinical use: Some guidelines recommend replacing OCBs in resource-limited areas. | ||||
| Notes and Dynamics | Combined use with OCBs can improve diagnostic sensitivity and reduce missed diagnoses. | ||||
| Biomarker | TSPO-PET (+) Lesions | Full name | TSPO-PET Positive Lesions | Molecular Type | Imaging Biomarker (Molecular Imaging) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Monitoring, Prognosis |
| Disease(or Constitution) | Multiple Sclerosis | Disease Subtypes | Common MS Biomarkers | ||
| Organ | Brain | Test Sample / Technology Platform | Brain PET (¹¹C-PK11195, ¹⁸F-DPA714) | ||
| Pathobiological Mechanisms | The 18 kDa transporter is expressed on activated microglia/macrophages, reflecting chronic inflammatory activity. | ||||
| Clinical Availability Status | Research validation / early clinical use: Can detect chronic inflammatory lesions negative on MRI. | ||||
| Notes and Dynamics | New TSPO ligands improve spatial resolution, a efficacy monitoring tool for targeted microglial therapy. | ||||