Autosomal recessive spastic ataxia 3 (SPAX3)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal recessive spastic ataxia 3 (SPAX3). This is caused by mutations in the MARS2 gene on chromosome 2q. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the MARS2 gene on chromosome 2q
- The transmission is autosomal recessive
- The onset age is 2-59 years; the mean is 15 years
Clinical features
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Differential diagnosis
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Magnetic resonance imaging (MRI): features
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Synonym
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References
- de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP. Reviewing the genetic causes of spastic-ataxias. Neurology 2012; 79:1507-1514.
- Bayat V, Thiffault I, Jaiswal M, et al. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLoS Biol 2012; 10:e1001288.
- Thiffault I, Rioux MF, Tetreault M, et al. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain 2006; 129:2332-2334.
Related checklists
- Autosomal dominant spastic ataxia (SPAX1)
- Autosomal recessive spastic ataxia 2 (SPAX2)
- Autosomal recessive spastic ataxia 4 (SPAX4)
- Autosomal recessive spastic ataxia 5 (SPAX5)
- Autosomal recessive spastic ataxia 6 (SPAX6)
- Autosomal dominant spastic ataxia 7 (SPAX7)
- Autosomal recessive spastic ataxia 8 (SPAX8)
- Galloway Mowat syndrome (GAMOS)
- PHARC syndrome
- Spastic ataxias: differential diagnosis
