Pantothenate kinase-associated neurodegeneration

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare clinically complex autosomal recessive genetic disorder due to PANK2 gene mutations. It is one of the syndromes with neurodegeneration with brain iron accumulation (NBIA). Onset is usually in early childhood. Typical clinical features that comprise dystonia, spasticity, retinitis pigmentosa, and pallidal hypointensities with a central area (eye of the tiger sign) on magnetic resonance imaging may be the diagnostic clue. Diagnostic genetic testing is available. Therapy remains symptomatic including drugs, deep brain stimulation, and supportive therapies. Reports on chelating therapies are controversial. A placebo-controlled randomized trial is on the way.