Familial amyotrophic lateral sclerosis
| Locus | Gene | Frequency | Phenotype |
| ALS1 (21q22)* | SOD1 | 15–20% of familial ALS, 1–2% of total ALS | Typical ALS clinically but no TDP-43 staining at autopsy |
| ALS2 (2q33) | Alsin | Rare recessive, mostly in inbred populations | Atypical. Juvenile onset upper motor neuron syndrome resembling primary lateral sclerosis |
| ALS3 (18q21)* | Unknown | One family | Typical ALS |
| ALS4 (9q34) | Senataxin | Very rare | Atypical. Young onset, slow progression, distal weakness with upper motor neuron features |
| ALS5 (15q15) | Unknown | Rare recessive | Atypical. Juvenile onset disease with slow progression |
| ALS6 (16q12)* | FUS | 3–5% of familial ALS | Typical ALS |
| ALS7 (20p13)* | Linkage unconfirmed | One family | Typical ALS |
| ALS8 | VAPB | Very rare, mostly Brazil | Atypical, variable, generally lower motor neuron |
| ALS9 (14q11)* | Angiogenin | Rare | Typical ALS |
| ALS10 (1p36)* | TDP-43 | 1–3% of familial ALS | Typical ALS |
| ALS-FTD | 9q21/9q21, others | Variable | ALS, frontotemporal dementia or both |
*Those conditions where the clinical picture is indistinguishable from sporadic forms of the disease.
ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia.