| Inheritance | Autosomal dominant |
| SNCA | Alpha-synuclein gene duplications and point mutations |
| GBA | Glucocerebrosidase gene mutations (strongest genetic risk factor) |
| COQ2 | Coenzyme Q10 biosynthesis gene variants |
| Other risk genes | SHC1, MAPT, STX1B |
| Mechanism | Mutations promote alpha-synuclein fibrillization |
| Phenotype | Typical MSA with prominent autonomic failure |
| SNCA A53T | Associated with familial MSA/PD |
| SNCA A30P | Reported in MSA families |
| N370S | Most common GBA mutation in Ashkenazi Jews |
| L444P | Severe mutation associated with Gaucher disease |
| E326K | Missense variant with moderate risk |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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