disease 1,300 words KG: ent-dise-eed658bf 2026-03-21
kind:diseasesection:diseasesstate:published
Contents

Bulbar Amyotrophic Lateral Sclerosis

Disease Info
PrevalenceBulbar ALS accounts for ~25-30% of all ALS cases[1]
Gender distributionSlight female predominance (approximately 1.3:1)
Age of onsetTypically later than limb-onset ALS, with mean onset around 60-65 years[1]
IncidenceApproximately 1-2 per 100,000 population annually[2]
SOD1 mutationsAccount for ~15-20% of familial cases[3]
TARDBP (TDP-43) mutationsAssociated with both familial and sporadic cases[3]
FUS mutationsLess common but implicated in some cases[3]
Motor neuron lossDegeneration of corticobulbar tract neurons and bulbar motor nuclei[4]
TDP-43 inclusionsSkp2-positive, p62-positive inclusions in surviving neurons[4]
GliosisReactive astrocytosis in affected regions[4]
Bunina bodiesSmall, eosinophilic inclusions (present in some cases)[4]
Corticobulbar tract degenerationUpper motor neuron involvement[4]
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (5)

Cryptic Exon Silencing Restoration
Score: 0.46
Cross-Seeding Prevention Strategy
Score: 0.45
Glycine-Rich Domain Competitive Inhibition
Score: 0.43
Serine/Arginine-Rich Protein Kinase Modulation
Score: 0.42
RNA-Binding Competition Therapy for TDP-43 Cross-Seeding
Score: 0.37

Related Analyses (5)

TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
RNA binding protein dysregulation across ALS FTD and AD
neurodegeneration · archived
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed

Related Experiments (11)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
cGAS/STING pathway activation by TDP-43-released mtDNA
exploratory · proposed · Score: 0.95
TDP-43 mutant mouse model cGAS/STING pathway analysis
validation · proposed · Score: 0.90
TDP-43 mitochondrial invasion and DNA release via mPTP
exploratory · proposed · Score: 0.90
TDP-43 mitochondrial invasion and mtDNA release in iPSC moto
exploratory · proposed · Score: 0.90