| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hereditary Spastic Paraplegias 3A (SPG3A, ATL1) | progressive spasticity & weakness of lower limbs | Autosomal Recessive | 14q22.1 | Missense | ATL1 | 353G>A | Arg118Gln | Amino Acid Substitution | 0/Khan et al., 2014 |
| Spastic Paraplegias 3A (SPG3A, ATL1) | progressive spasticity & weakness of lower limbs | Autosomal Recessive | 14q22.1 | Missense | ATL1 | 353G>A | Arg118Gln | Amino Acid Substitution | 0/Khan et al., 2014 |
| Spastic Paraplegias 13 (SPG13, ALS2) | progressive spasticity & weakness of lower limbs | Autosomal Dominant | 2q33.1 | Deletion | ALS2 | 4844delT | Frame shift mutation & PTC | 0/Gros-Louis et al., 2003 |
