| Neuronal development | Essential for embryonic neurogenesis |
| Synaptic function | Regulates vesicle trafficking and neurotransmitter release |
| Transcriptional regulation | Supports neuronal survival through gene expression control |
| Axonal transport | Facilitates organelle and protein trafficking |
| Autophagy | Participates in cellular quality control mechanisms |
| Paternal transmission bias | Paternal repeats are more unstable, especially during spermatogenesis |
| Repeat expansion | The repeat tends to increase when passed to offspring |
| Maternal effects | Maternal transmission is more stable but expansion can still occur |
| Motor presentation | Predominant bradykinesia and rigidity (rather than chorea) |
| Seizures | Occur in approximately 30% of cases |
| Rapid progression | More aggressive disease course |
| Repeat length | Usually associated with > 60 CAG repeats |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
No AI portrait yet
No comments yet. Be the first to comment!
No comments yet. Be the first to comment!