| | Pathology | Clinical feature | Prevalence | References | | | | | | | | TDP-43 | P62/ubiquitin | Ubiquilin2 | FUS | SOD1 | Tau |
| | FTD/ALS C9orf72 | + | + | − | − | − | − | ALS—weakness in limbs (50–70%), bulbar involvement, dementia, and psychosis. FTD—behavioural variant, psychiatric symptoms. | 60% hereditary ALS-FTD
Up to 21% sporadic ALS
7–10% sporadic FTD | [22, 25–28] |
| | FTD/ALS UBQLN2 | + | + | + | + | − | − | ALS—upper motor neuron with spasticity, bulbar and pseudobulbar dysfunction, lower motor neuron involvement not prominent, and dementia. FTD—behavioural variant. | 5 families | [32, 33] |
| | ALS FUS | − | + | − | + | − | − | Lower motor neuron signs with limbs and bulbar distribution, and upper motor neuron signs are common. | 4-5% familial ALS
0.5–0.7% sporadic ALS | [24, 29, 30, 34, 35] |
| | ALS SOD1 | − | + | − | − | + | − | Lower and upper motor neuron signs, bulbar onset is unusual, and weakness in limbs is asymmetric. | 12-13% familial ALS
1–3% sporadic ALS | [24, 36, 37] |
| | ALS TARDBP | + | + | − | − | − | − | Weakness in arms before legs, few patients with bulbar involvement, and upper motor neuron involvement with mild or absent spasticity. | 3–6% familial ALS
8 patients described sporadic ALS | [24, 38] |
| | FTD tau (MAPT) | − | − | − | − | − | + | Behavioural variant, progressive nonfluent aphasia. | Up to 50% of total FTD patients | [39–41] |
| | FTD FUS | − | + | − | + | − | − | Behavioural variant. | <1% of total FTD patients | [28, 41] |
| FTD-TDP
(GRN) | + | + | − | − | − | − | Behavioural variant, semantic dementia, and progressive nonfluent aphasia. | 3–26% of total FTD patients | [15, 36, 41–44] |
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