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

Inflammatory and infective differentials

Metabolic and toxic differentials

Leukodystrophies

Acronyms

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