Autosomal recessive ataxias: types
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Autosomal recessive ataxias: types. Friedreich’s ataxia (FA), Mitochondrial recessive ataxia syndrome (MIRAS). Fully referenced neurology checklist.
Degenerative autosomal recessive ataxias
- Friedreich’s ataxia (FA)
- Mitochondrial recessive ataxia syndrome (MIRAS)
- Early onset cerebellar ataxia with retained tendon reflexes (EOCARR, Harding’s ataxia)
- Infantile onset spinocerebellar ataxia (IOSCA)
- Marinesco-Sjogren syndrome
- Coenzyme Q deficiency with cerebellar ataxia
- Posterior column ataxia with retinitis pigmentosa (PCARP)
Autosomal recessive ataxias due to DNA repair defect
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Metabolic autosomal recessive ataxias
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Mitochondrial autosomal recessive ataxias
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Congenital
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Autosomal recessive spastic ataxias (SPAX 2-6)
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Autosomal recessive spinocerebellar ataxias (SCAR)
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Miscellaneous autosomal recessive ataxia gene mutations
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References
- Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006; 1:47.
- Vermeer S, van de Warrenburg BP, Willemsen MA, et al. Autosomal recessive cerebellar ataxias: the current state of affairs. J Med Genet 2011; 48:651e659.
- Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
- Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012; 366:636-646.
- Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245–257.
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