disease

ALS

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about ALS: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

18426Connections
4Hypotheses
30Analyses
50Outgoing
50Incoming

Summary

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a fatal neurodegenerative disorder affecting upper and lower motor neurons. Approximately 10% of cases are familial, with mutations in genes including SOD1, C9orf72, TARDBP (TDP-43), and FUS. ALS pathology involves protein aggregation, RNA processing defects, mitochondrial dysfunction, and neuroinflammation.

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Disease Info
UNC13AVariants in this gene modify disease progression and survival in ALS[@diekstra2012]
ATXN2Intermediate CAG repeats increase ALS risk approximately 2-fold[@soraru2013]
DAXXRecent GWAS has identified this gene as a novel ALS risk factor[@van2023]
Loss of motor neuronsProgressive death ofcortical and spinal motor neurons with accompanying gliosis[@charcot1969]
Bunina bodiesSmall, intracytoplasmic inclusions found in approximately 70% of cases[@bunina1962]
TDP-43 inclusionsUbiquitinated inclusions containing phosphorylated TDP-43 in approximately 95% of ALS cases (both sporadic and most familial forms except SOD1)[@arai2006]
Dystrophic neuritesAbnormal neuronal processes surrounding inclusion bodies[@dickson2007]
Associated GenesTDP43, CGAMP, C9ORF72, OPTN, SOD1, ALS_GENES, TREM2, UBQLN2
Therapeutic AgentssEVs, TUDCA, Trametinib, Antisense Oligonucleotides, Honokiol, Trehalose
KG Connections8483 knowledge graph edges
DatabasesOMIMOrphanetClinicalTrialsPubMed

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Amyotrophic Lateral Sclerosis (ALS)

disease · 3458 words

cbs-psp-daily-action-plan

therapeutic · 30834 words

Personalized Treatment Plan — Atypical Parkinsonism (CBS/PSP)

therapeutic · 15794 words

AAV Gene Therapy for Neurodevelopmental Epilepsy — Competitive Landscape & Delivery Alternatives

therapeutic · 15567 words

Clinical Management Guide for CBS/PSP

therapeutic · 15224 words

Progressive Supranuclear Palsy (PSP)

disease · 12907 words

Pathway Diagram

graph TD
    subgraph Pathology["Pathology"]
        ALS["ALS"] -->|"associated with"| FTD["FTD"]
        ALS["ALS"] -->|"associated with"| NEURON["NEURON"]
        ALS["ALS"] -->|"associated with"| TAU["TAU"]
        ALS["ALS"] -->|"associated with"| MICROGLIA["MICROGLIA"]
        ALS["ALS"] -->|"associated with"| Als["Als"]
        ALS["ALS"] -->|"associated with"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
        ALS["ALS"] -->|"associated with"| Autophagy["Autophagy"]
        C9ORF72["C9ORF72"] -->|"causes"| ALS["ALS"]
        SOD1["SOD1"] -->|"causes"| ALS["ALS"]
        OXIDATIVE_STRESS["OXIDATIVE STRESS"] -->|"associated with"| ALS["ALS"]
        AXONAL_TRANSPORT_DEFECTS["AXONAL TRANSPORT DEFECTS"] -->|"associated with"| ALS["ALS"]
        AMYOTROPHIC_LATERAL_SCLEROSIS["AMYOTROPHIC LATERAL SCLEROSIS"] -->|"associated with"| ALS["ALS"]
    end
    subgraph Signaling["Signaling"]
        ALS["ALS"] -->|"activates"| Neurodegeneration["Neurodegeneration"]
        ALS["ALS"] -->|"activates"| Als_1["Als"]
    end
    subgraph Therapeutic["Therapeutic"]
        NEURODEGENERATIVE_DISEASES["NEURODEGENERATIVE DISEASES"] -->|"therapeutic target"| ALS["ALS"]
    end
    style ALS fill:#ef5350,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0,font-weight:bold
    style FTD fill:#ef5350,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style NEURON fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style TAU fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style MICROGLIA fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style Als fill:#ef5350,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style Amyotrophic_Lateral_Sclerosis fill:#ef5350,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style Neurodegeneration fill:#ef5350,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style Als_1 fill:#ef5350,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style Autophagy fill:#1b5e20,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style C9ORF72 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style SOD1 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style OXIDATIVE_STRESS fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style AXONAL_TRANSPORT_DEFECTS fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style AMYOTROPHIC_LATERAL_SCLEROSIS fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0
    style NEURODEGENERATIVE_DISEASES fill:#4a1a6b,stroke:#4fc3f7,stroke-width:1px,color:#e0e0e0

Outgoing (5123)

TargetRelationTypeStr
FTDassociated_withdisease1.00
NEURONassociated_withgene1.00
TAUassociated_withgene1.00
MICROGLIAassociated_withgene1.00
Alsassociated_withdisease1.00

Incoming (13303)

SourceRelationTypeStr
C9ORF72causesgene1.00
SOD1causesgene1.00
OXIDATIVE STRESSassociated_withgene1.00
AXONAL TRANSPORT DEFECTSassociated_withgene1.00
AMYOTROPHIC LATERAL SCLEROSISassociated_withgene1.00

Targeting Hypotheses (4)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
Stathmin-2 Splice Switching to Prevent Axonal Degeneration A 0.664 neurodegeneration RNA binding protein dysregulation across
Microglial AIM2 Inflammasome as the Primary Driver of TDP-43 0.601 neurodegeneration What are the mechanisms by which gut mic
PIKFYVE Inhibition Activates Aggregate Exocytosis via PI(3,5 0.559 neurodegeneration How does PIKFYVE inhibition activate unc
C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by 0.537 neurodegeneration How does PIKFYVE inhibition activate unc

Mentioning Analyses (30)

Scientific analyses that reference this entity

How does SYNGAP1, a 'synaptic' protein, function in pre-synaptic radial glia cel

neurodevelopment | 2026-04-15 | 1 hypotheses Top: 0.576

Why does PRKN-mediated mitophagy, typically protective, cause harmful mitochondr

neurodegeneration | 2026-04-15 | 2 hypotheses Top: 0.455

Does clusterin exacerbate or protect against neuronal death in neurodegeneration

neurodegeneration | 2026-04-14 | 1 hypotheses Top: 0.548

Why do p300/CBP inhibitors reduce both AD incidence and clinically diagnosed TBI

neurodegeneration | 2026-04-14 | 1 hypotheses Top: 0.604

How does FUS loss-of-function in TAZ regulation contribute to ALS/FTD pathogenes

neurodegeneration | 2026-04-14 | 1 hypotheses Top: 0.606

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found