Friedreich’s ataxia (FA): clinical features

Genetics

• This is caused by mutations in the FRDA gene on chromosome 9q13
• The transmission is autosomal recessive
• It is a GAA trinucleotide repeat expansion disease
• The repeat size correlates with disease severity
• There is reduced frataxin expression

Sites of pathology

Onset age and types

Neurological features

Ophthalmic features

Systemic features

Magnetic resonance imaging (MRI): sites of atrophy

Magnetic resonance imaging (MRI) brain: other features

References

1. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006; 1:47.
2. Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol 2005; 62:1865-1869.
3. Delatycki MB, Tai G, Corben L, et al. HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. Mov Disord 2014; 29:940-943.
4. Lecocq C, Charles P, Azulay JP, et al. Delayed-onset Friedreich's ataxia revisited. Mov Disord 2016; 31:62-69.
5. Koppel AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011; 303:1-12.
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Related checklists

• Late onset Friedreich’s ataxia (LOFA)
• Friedreich’s ataxia (FA): differential diagnosis
• Friedreich’s ataxia (FA): monitoring
• Friedreich’s ataxia (FA): treatment