LAUSR

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare progressive autosomal recessive disease caused by mutations in the PANK2 gene. PANK2 encodes a pantothenate kinase, an enzyme involved in coenzyme A production. The clinical presentation of PKAN is variable, with 2 main phenotypes: classic and atypical. Classic PKAN has early onset (first decade) with predominant signs of dystonia, often beginning as lower-limb dystonia, pyramidal dysfunction, and developmental delay. Atypical PKAN has a later disease onset (>10 years) and often a slower disease progression. Although dystonia is the most frequent movement disorder in atypical PKAN, parkinsonism or chorea may be encountered along with neuropsychiatric symptoms. Here, we present a case of atypical PKAN with dystonic and neuropsychiatric features, who later developed parkinsonism with partial response to levodopa (L-dopa) and herbal cannabis.