| Inheritance | Autosomal recessive; both parents must carry a pathogenic ASPA variant |
| Prognosis | Significantly better than infantile form; survival into adulthood is common |
| Ashkenazi Jewish population | Carrier frequency of approximately 1 in 37–40; disease incidence estimated at 1 in 6,400–13,500 births (Feigenbaum et al., 2004) |
| General population | Carrier frequency approximately 1 in 200; exact incidence unknown but significantly lower |
| Other populations | Cases reported in diverse ethnic backgrounds including Saudi Arabian, Turkish, European, and Indian populations |
| p.Glu285Ala (E285A) | Most common in Ashkenazi Jewish patients (~83% of alleles) |
| p.Tyr231Ter (Y231X) | Second most common (~13% of Ashkenazi alleles) |
| p.Ala305Glu (A305E) | Common in non-Jewish European patients |
| Early signs (1-3 months) | Hypotonia, poor head control, feeding difficulties, macrocephaly |
| Motor regression (3-6 months) | Loss of acquired motor milestones, progressive spasticity replacing hypotonia |
| Characteristic features | Severe macrocephaly (head circumference >98th percentile), optic atrophy, seizures |
| MRI findings | Diffuse symmetric white matter involvement with elevated NAA on MR spectroscopy — pathognomonic for Canavan disease (Barkovich & Patay, 2019) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |