We further show that rearrangements in its human homologue, MARS2 (Methionyl Aminoacyl-tRNA Synthetase 2, NP_612404.1), are responsible for a human neurodegenerative disease named ARSAL, for Autosomal Recessive Spastic Ataxia with Leukoencephalopathy, or Spastic Ataxia type 3 (SPAX3, OMIM #611390) [28]. Here, MARS2 is linked to spastic ataxia 3.