Abstract
Mutations in PANK2 , PLA2G6 , C19orf12 , FA2H , ATP13A2 , WDR45 , COASY , FTL , CP , and DCAF17 cause neurodegeneration with brain iron accumulation (NBIA), but the genetic etiology remains undefined in many patients. We report the second patient with sterol carrier protein x (SCPx) deficiency presenting with adult-onset spinocerebellar ataxia and brain MRI characteristic of NBIA.
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