| Nonsense mutations | Premature stop codons leading to truncated proteins |
| Missense mutations | Amino acid substitutions affecting enzyme folding, stability, or catalytic activity |
| Splice-site mutations | Abnormal mRNA processing resulting in exon skipping or intron retention |
| Insertions/deletions | Frameshift mutations causing premature termination |
| Lysosomal membrane destabilization | Accumulated gangliosides alter membrane properties |
| Endoplasmic reticulum stress | Misfolded proteins trigger unfolded protein response |
| Oxidative stress | Mitochondrial dysfunction leads to increased reactive oxygen species |
| Inflammation | Microglial activation and cytokine release contribute to neurodegeneration |
| Apoptosis | Neuronal cell death through both intrinsic and extrinsic pathways |
| Cerebellar Purkinje cells | Early and severe degeneration |
| Cortical pyramidal neurons | Progressive loss of upper cortical layers |
| Retinal ganglion cells | Cherry-red spot appearance in fundoscopy |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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