| Biomarker | CK-MB | Full name | Creatine Kinase MB Isoenzyme | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS | ||
| Organ | Brain | Test Sample / Technology Platform | Serum (Electrochemiluminescence Immunoassay, Immunoturbidimetry) | ||
| Pathobiological Mechanisms | Muscle denervation leads to myocyte membrane injury, and CK-MB is released into the blood. | ||||
| Clinical Availability Status | Clinical auxiliary diagnosis | ||||
| Notes and Dynamics | Serum CK-MB is elevated in 53.8% of ALS patients, positively correlated with cardiac troponin T (cTnT); combined detection distinguishes ALS from ALS-mimics with an accuracy of 86%. | ||||
| Biomarker | YKL-40 | Full name | Chitinase 3-Like Protein 1 | Molecular Type | Protein (Cytokine) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Prognosis |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (ELISA, Luminex) | ||
| Pathobiological Mechanisms | Secreted by activated microglia, involved in extracellular matrix remodeling, aggravating neuroinflammation. | ||||
| Clinical Availability Status | Research validation stage | ||||
| Notes and Dynamics | Elevated levels are positively correlated with the rate of cognitive decline, serving as an efficacy monitoring indicator for NLRP3 inhibitors; CSF YKL-40 levels are higher in C9orf72 mutation carriers than in sporadic ALS. | ||||
| Biomarker | pNfH | Full name | Phosphorylated Neurofilament Heavy Chain | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (ELISA, Luminex, Single-Molecule Array) | ||
| Pathobiological Mechanisms | NfH is hyperphosphorylated after axonal injury, with enhanced stability; released to reflect the degree of neuronal injury. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Plasma pNfH levels in spinal onset ALS patients are 28% higher than in bulbar onset, positively correlated with the annual progression rate of ALSFRS-R; can distinguish ALS from Spinal Muscular Atrophy (SMA). | ||||
| Biomarker | SOD1 Mut (e.g., G93A) | Full name | Superoxide Dismutase 1 Mutants (e.g., G93A) | Molecular Type | Nucleic Acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Etiological Confirmation, Treatment Selection |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Familial ALS (SOD1 Mutation) | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, Digital PCR) | ||
| Pathobiological Mechanisms | Mutations cause SOD1 misfolding, enhance oxidative stress, disrupt mitochondrial function, and promote dopaminergic neuron apoptosis. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | A core screening biomarker for SOD1 antisense oligonucleotide drug (Tofersen) clinical trials; a 36% decrease in CSF SOD1 levels in mutants indicates treatment response. | ||||
| 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, Early Warning |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Familial ALS (C9orf72 Mutation) | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Long-Read Gene Sequencing, PCR) | ||
| Pathobiological Mechanisms | Repeat sequences produce toxic dipeptide repeat proteins (e.g., poly-GP) through RAN translation, induce TDP-43 aggregation, and activate neuroinflammation. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | CSF poly-GP levels in mutation carriers are 3.2 times higher than in healthy individuals, detectable 10 years in advance; positively correlated with the incidence of cognitive impairment. | ||||
| Biomarker | NfL | Full name | Neurofilament Light Chain | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis, Disease Monitoring |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (SIMOA, ELISA, Luminex) | ||
| Pathobiological Mechanisms | Released after neuronal axonal injury, directly reflecting the degree of pan-neurodegeneration, synchronized with motor function decline. | ||||
| Clinical Availability Status | Clinically available (under FDA qualification) | ||||
| Notes and Dynamics | Plasma NfL >20pg/mL indicates rapid progression; combined with pNfH can distinguish ALS from benign muscular atrophy; used as a neuroprotective efficacy endpoint in phase II clinical trials. | ||||
| Biomarker | NLR | Full name | Neutrophil-Lymphocyte Ratio | Molecular Type | Cell Ratio |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Hematology Analyzer) | ||
| Pathobiological Mechanisms | A systemic inflammatory indicator; elevated in FTD due to microglial activation, reflecting progression risk. | ||||
| Clinical Availability Status | Clinically available (routine testing) | ||||
| Notes and Dynamics | The survival period of bvFTD patients with NLR >3.5 is 42% shorter than those with NLR <2, positively correlated with CSF IL-6. | ||||
| Biomarker | [18F]-FDG (PET) | Full name | [18F]-FDG (Glucose Metabolism PET Imaging) | Molecular Type | Imaging Biomarker |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Pathological Confirmation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Brain (PET Imaging) | ||
| Pathobiological Mechanisms | Reflects neuronal function; glucose metabolism is decreased in the frontotemporal lobe of FTD patients. | ||||
| Clinical Availability Status | Clinical auxiliary diagnosis | ||||
| Notes and Dynamics | Orbital frontal cortex metabolism is decreased by 40% in bvFTD patients; left temporal lobe metabolism is decreased by 35% in svPPA patients, negatively correlated with plasma NfL. | ||||
| Biomarker | [18F]-flortaucipir (tauPET) | Full name | [18F]-flortaucipir (tauPET Imaging) | Molecular Type | Imaging Biomarker |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Diagnosis |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | MAPT Mutation Carriers | ||
| Organ | Brain | Test Sample / Technology Platform | Brain (PET Imaging) | ||
| Pathobiological Mechanisms | Specifically binds to abnormal intracerebral tau aggregation, showing frontotemporal tau deposition in MAPT mutation carriers. | ||||
| Clinical Availability Status | Research validation stage | ||||
| Notes and Dynamics | The positive rate of tauPET in MAPT mutation carriers is 95%; the positive rate in sporadic FTD-tau is 60%, which can predict the rate of cognitive decline. | ||||
| Biomarker | miR-124 | Full name | MicroRNA-124 | Molecular Type | Non-coding RNA (microRNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Subtype Differentiation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/Prefrontal Cortex (qPCR, RNA-seq) | ||
| Pathobiological Mechanisms | Regulates neurogenesis and synaptic function; plasma levels are decreased in FTD due to neuronal injury. | ||||
| Clinical Availability Status | Research stage | ||||
| Notes and Dynamics | Plasma miR-124 distinguishes FTD from AD, positively correlated with executive function scores in bvFTD. | ||||
| Biomarker | NPTX2 | Full name | Neuronal Pentraxin 2 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Disease Monitoring, Prognosis |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | CSF (ELISA, WB) | ||
| Pathobiological Mechanisms | A presynaptic protein involved in synaptic plasticity, decreased in FTD due to synaptic injury. | ||||
| Clinical Availability Status | Research exploration stage | ||||
| Notes and Dynamics | One of the earliest abnormal CSF biomarkers in FTD; decreased 5 years before symptoms in GRN mutation carriers, negatively correlated with frontotemporal synaptic density. | ||||
| Biomarker | YKL-40 | Full name | Chitinase 3-Like Protein 1 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Prognosis |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (ELISA, Luminex) | ||
| Pathobiological Mechanisms | Secreted by activated microglia, involved in extracellular matrix remodeling, aggravating neuroinflammation. | ||||
| Clinical Availability Status | Research stage | ||||
| Notes and Dynamics | CSF YKL-40 in bvFTD patients is 40% higher than in svPPA, positively correlated with behavioral abnormality scores, an efficacy indicator for NLRP3 inhibitors. | ||||
| Biomarker | p-tau181 | Full name | Phosphorylated Tau181 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Subtype Differentiation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (ELISA, Luminex) | ||
| Pathobiological Mechanisms | Elevated in AD, no significant change in FTD, used to distinguish FTD from AD. | ||||
| Clinical Availability Status | Clinical auxiliary diagnosis | ||||
| Notes and Dynamics | Plasma p-tau181 >6pg/mL suggests AD; most FTD cases have <4pg/mL; combined with CSF Aβ42/Aβ40 the differentiation accuracy is 92%. | ||||
| Biomarker | GFAP | Full name | Glial Fibrillary Acidic Protein | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Prognosis |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (SIMOA, Immunoassay) | ||
| Pathobiological Mechanisms | Released after astrocyte activation, reflecting blood-brain barrier injury and neuroinflammation. | ||||
| Clinical Availability Status | Research validation stage | ||||
| Notes and Dynamics | Plasma GFAP in AD patients is 35% higher than in FTD, distinguishing AD from bvFTD; CSF GFAP is elevated 1 year before symptoms in GRN mutation carriers. | ||||
| Biomarker | Progranulin | Full name | Progranulin Protein | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Disease Monitoring, Etiological Confirmation |
| Disease(or Constitution) | Frontotemporal Dementia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (ELISA, Luminex) | ||
| Pathobiological Mechanisms | GRN mutations cause decreased expression; non-mutant forms decrease due to increased degradation, involved in synaptic repair. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Plasma progranulin <10ng/mL suggests GRN mutation; CSF levels in non-mutant forms are negatively correlated with frontotemporal atrophy. | ||||
| Biomarker | TRAb | Full name | TSH receptor antibody | Molecular Type | antibody |
| Molecular Formula | Macromolecule | Molecular Weight | / | Core Functional Dimensions | Typing and etiological diagnosis |
| Disease(or Constitution) | Thyroid Dysfunction | Disease Subtypes | Primary hyperthyroidism | ||
| Organ | Thyroid | Test Sample / Technology Platform | Serum (ELISA, radiation receptor analysis) | ||
| Pathobiological Mechanisms | Activation of thyroid TSH receptors promotes excessive hormone secretion | ||||
| Clinical Availability Status | Graves disease specific markers (positive rate 90% +) | ||||
| Notes and Dynamics | Can distinguish between graves disease and toxicity of nodular goiter | ||||