| Prevalence | 1-9 per 1,000,000 worldwide |
| Typical Onset | Typically presents in early childhood (1-4 years of age) |
| Inheritance | Autosomal recessive |
| Incidence | Approximately 1 in 70,000 live births |
| Gender | Affects males and females equally |
| [Neurons](/entities/neurons) | Primary cause of neurocognitive decline |
| [Astrocytes](/entities/astrocytes) | Contributes to neuroinflammation |
| Microglia | Mediates inflammatory responses |
| Peripheral tissues | Causes somatic manifestations |
| [Cortex](/brain-regions/cortex) | Cognitive decline and behavioral problems |
| Basal ganglia | Movement disorders |
| Cerebellum | Ataxia and motor coordination issues |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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