| North America | Prevalence estimates of 2-4 per 100,000, with higher rates in older populations |
| Europe | Similar prevalence to North America (2-5 per 100,000), with notable multicenter studies from the UK, Germany, Italy, and Spain[@europe2021] |
| Asia | Generally lower reported prevalence (1-3 per 100,000), though Japanese studies provide relatively robust data[@japan2023] |
| Other regions | Limited data from Latin America, Africa, and Middle East |
| MAPT mutations | Particularly associated with familial CBS, often presenting with earlier onset |
| GRN mutations | Account for approximately 2-5% of sporadic cases |
| C9orf72 expansions | Rare but established cause of CBS-FTD spectrum |
| MAPT H1 haplotype | Increases risk for sporadic CBS by approximately 2-3 fold |
| Head trauma | Some case-control studies suggest increased risk with history of traumatic brain injury |
| Occupational exposures | Limited evidence for pesticide or solvent exposure |
| Vascular risk factors | Mixed evidence for hypertension, diabetes, and cardiovascular disease |
| Mean disease duration | 6.2 years (range 2-15 years) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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