|
|
---|---|
PKAN | PANK2 gene, iron deposition on MRI |
PLA2G6-associated neurodegeneration | PLA2G6 gene |
Neuroacanthocytosis | Acanthocytes screen, protein assay, VPS13A gene test |
Neuroferritinopathy | FTL gene, iron deposition on MRI |
Lesch-Nyhan disease | Serum and urinary uric acid, HPRT1 gene |