| AD | Alzheimer’s disease |
| ASFMR1-TV2 | antisense FMR1 transcript/splice variant 2 |
| DGCR8 | DiGeorge Syndrome Critical Region 8 |
| FM | Full mutation |
| FMR1 | Fragile X Mental Retardation 1 gene |
| FMRP | Fragile X Mental Retardation Protein |
| FXAND | Fragile X-associated neuropsychiatric disorders |
| FXPOI | Fragile X-associated primary ovarian insufficiency |
| FXTAS | Fragile-X-associated tremor/ataxia syndrome |
| FXS | Fragile X syndrome |
| hnRNP A2/B1 | heterogeneous nuclear ribonucleoproteins A2/B1 |
| HP1 | heterochromatin protein 1 |
| LAP2β | Lamina-associated polypeptide 2 beta |
| MCP | Middle Cerebellar Peduncles |
| MRI | Magnetic Resonance Images |
| PD | Parkinson’s disease |
| PM | Premutation |
| PSP | Progressive supranuclear palsy |
| Purα | Pur-alpha |
| RANT | Repeat associated non-AUG translation |