disease 1,300 words KG: ent-dise-eed658bf
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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

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