This report describes spastic ataxia 3, autosomal recessive (SPAX3); this disease is also known as known as autosomal recessive spastic ataxia with leukoencephalopathy (ARSAL). SPAX3 is one of two diseases associated with the gene MARS2, a nuclear gene that encodes a mitochondrial methionyl-tRNA synthetase protein. See the human disease model report 'neuromuscular disease, MARS2-related' (FBhh0000575).
In humans, lesions in MARS2 that result in symptoms of spastic ataxia usually involve genomic rearrangements (FBrf0217845).
[updated Jul. 2019 by FlyBase; FBrf0222196]
[SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3](https://omim.org/entry/611390)
[METHIONYL-tRNA SYNTHETASE 2; MARS2](https://omim.org/entry/609728)
Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. [from MIM:108600; 2016.11.28]
Autosomal recessive spastic ataxia 3 (SPAX3) is caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene. Bayat et al. (2012; pubmed:22448145, FBgn0217845) hypothesized that the numerous repetitive elements present in this gene induced genomic instability and caused template switching during DNA replication, as well as recombination errors. [from MIM:611390; 2016.11.28]
MARS2 is a nuclear gene that encodes a mitochondrial methionyl-tRNA synthetase protein; the MARS2 protein is imported into the mitochondrion and is predicted to localize to the mitochondrial matrix. [from Gene Cards, MARS2; 2016.11.28]
One to one: 1 human to 1 Drosophila.
