Friedreich’s ataxia (FA): differential diagnosis
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Friedreich’s ataxia (FA): differential diagnosis. Friedreich’s ataxia (FA), Ataxia with vitamin E deficiency (AVED). Fully referenced neurology checklist.
Friedreich’s ataxia-like phenotypes
- Friedreich’s ataxia (FA)
- Ataxia with vitamin E deficiency (AVED)
- Abetalipoproteinaemia
- Refsum’s disease
Friedreich’s ataxia-like phenotypes with cerebellar atrophy
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Early onset ataxia phenotypes with cerebellar atrophy
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Other differentials
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Differentiating tests
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References
- Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245-257.
- Gasser T, Finstererb J, Baetsc J, et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010, 17:179–188.
- Salomão RPA, Gama MTD, Rezende Filho FM, Maggi F, Pedroso JL, Barsottini OGP. Late-onset Friedreich's ataxia (LOFA) mimicking Charcot-Marie-Tooth disease type 2: what is similar and what is different? Cerebellum 2017; 16:599-601.
- Salisachs P, Findley LJ, Codina M, La Torre P, Martinez-Lage JM. A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between Friedreich's ataxia and Charcot-Marie-Tooth disease? Can J Neurol Sci 1982; 9:99-103.
- Panas M, Kalfakis N, Karadima G, Davaki P, Vassilopoulos D. Friedreich's ataxia mimicking hereditary motor and sensory neuropathy. J Neurol 2002; 249:1583-1156.
