| UNC13A | Variants in this gene modify disease progression and survival in ALS[@diekstra2012] |
| ATXN2 | Intermediate CAG repeats increase ALS risk approximately 2-fold[@soraru2013] |
| DAXX | Recent GWAS has identified this gene as a novel ALS risk factor[@van2023] |
| Loss of motor neurons | Progressive death ofcortical and spinal motor neurons with accompanying gliosis[@charcot1969] |
| Bunina bodies | Small, intracytoplasmic inclusions found in approximately 70% of cases[@bunina1962] |
| TDP-43 inclusions | Ubiquitinated inclusions containing phosphorylated TDP-43 in approximately 95% of ALS cases (both sporadic and most familial forms except SOD1)[@arai2006] |
| Dystrophic neurites | Abnormal neuronal processes surrounding inclusion bodies[@dickson2007] |
| KG Connections | 18 knowledge graph edges |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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