In humans, mutations in FA2H (OMIM611026) are associated with recessively inherited spastic paraplegia type 35 (Dick et al. 2010), leukodystrophy with spasticity and dystonia (Edvardson et al. 2008), and fatty acid hydroxylase-associated neurodegeneration, a rare subtype neurodegeneration with brain iron accumulation (Kruer et al. 2010). Here, FA2H is linked to Dystonia.