| ABC | ATP binding cassette |
| ASD | autism spectrum disorder |
| CRISPR | Clustered regularly interspaced short palindromic repeats |
| DNA | Deoxyribonucleic acid |
| DRD1 | Dopamine receptor D1 |
| FHA | Forkhead associated domain |
| HSAN | Hereditary sensory and autonomic neuropathy |
| HSP | Hereditary spastic paraplegia |
| HSV | Herpes simplex virus |
| KAND | KIF1A associated neurological disorders |
| KRD | KIF1A related disorders |
| LV | Lenti virus |
| OMIM | Online Mendelian Inheritance in Man |
| PEHO | Progressive encephalopathy with oedema, Hypsarrhythmia and optic atrophy |
| PH | Pleckstrin homology |
| rAAV | recombinant Adenome associated virus |
| SIFT | Scale in variant feature transform |
| SPG30 | Spastic paraplegia 30 |
| WES | Whole exome sequencing |