Pantothenate kinase-associated neurodegeneration (PKAN) is a form Neurodegeneration with Brain Iron Accumulation characterized by tissue damage and abnormal iron accumulation in the globus pallidus that manifests as an eye-of-the-tiger sign on T2-weighted MRI. There are two types of PKAN, classic and atypical, with significant variation within groups. The hallmark features of classic PKAN are onset before age 10 years, with progressive dystonia and abnormal iron accumulation in the globus pallidus. Atypical disease occurs in about 25% of cases, with onset after 10 years, slower progression and more prominent neuropsychiatric changes and dysarthria. The incidence of PKAN is estimated at 1-2 per million. It is inherited as an autosomal recessive disease caused by variants in PANK2. Treatment is currently palliative, although in recent years several clinical trials have become available.
PANK2