Spastic ataxias: differential diagnosis

Genetic differentials

• Abetalipoproteinemia
• Ataxia with vitamin E deficiency (AVED)
• CAMOS syndrome
• CARASIL
• Coenzyme Q10 deficiency
• Hereditary spastic ataxias
• Hereditary spastic paraparesis 7 (HSP7)
• Hereditary spastic paraparesis (HSP) with SPG 54
• Late-onset Friedreich’s ataxia
• PHARC syndrome

References

1. 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. 
2. Doi H, Ushiyama M, Baba T, et al. Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. Sci Rep 2014; 4:7132.
3. Ragno M, De Michele G, Cavalcanti F, et al. Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia. Neurology 1997; 49:1617-1620.
4. Berciano J, Mateo I, De Pablos C, Polo JM, Combarros O. Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia. J Neurol Sci 2002; 194:75-82.
5. Harrington WJ Jr, Sheremata W, Hjelle B, et al. Spastic ataxia associated with human T-cell lymphotropic virus type II infection. Ann Neurol 1993; 33:411-414.
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Related checklists

• Autosomal dominant spastic ataxia (SPAX1)
• Autosomal recessive spastic ataxia 2 (SPAX2)
• Autosomal recessive spastic ataxia 3 (SPAX3)
• 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