| SLC35A2 | Glycosylation defect |
| PPM1D | Recently identified |
| PRDM8 | Identified in 2022 |
| Polyglucosan | Abnormal glycogen with fewer branches |
| Reduced solubility | Precipitates in neuronal cytoplasm |
| Progressive accumulation | Increases with disease progression |
| Widespread distribution | Found in neurons, muscle, liver, heart |
| Endoplasmic reticulum stress | Accumulated proteins cause cellular stress |
| Autophagy impairment | Defective clearance mechanisms |
| Neuroinflammation | Activation of microglia and astrocytes |
| Synaptic dysfunction | Disruption of neuronal communication |
| Axonal degeneration | Progressive loss of neuronal processes |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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