| Prevalence | 1-3 per million population worldwide |
| Prevalence within NBIA | 35-50% of all NBIA cases |
| Inheritance pattern | Autosomal recessive (both copies of PANK2 must be mutated) |
| Gender distribution | Equal affected males and females |
| Age of onset | Two main clinical forms |
| Classic PKAN | Onset before age 6 (accounts for ~75% of cases) |
| Atypical PKAN | Onset after age 10, typically in adolescence |
| Location | Chromosome 20p13 |
| Exons | 16 |
| Protein | 691 amino acids |
| Subcellular localization | Mitochondrial matrix |
| Null (loss-of-function) mutations | Complete loss of PANK2 activity; typically associated with classic, severe PKAN phenotype |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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