Autosomal recessive ataxias: types

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

Metabolic autosomal recessive ataxias

Mitochondrial autosomal recessive ataxias

Congenital

Autosomal recessive spastic ataxias (SPAX 2-6)

Autosomal recessive spinocerebellar ataxias (SCAR)

Miscellaneous autosomal recessive ataxia gene mutations

References

1. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006; 1:47.
2. 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.
3. Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
4. Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012; 366:636-646.
5. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245–257.
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Related checklists

• Autosomal dominant ataxias: types
• X linked ataxias: types