Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Maia R, Bell D, et al. Friedreich ataxia. Reference article, Radiopaedia.org (Accessed on 19 Mar 2024) https://doi.org/10.53347/rID-10496
Friedreich ataxia is the most common hereditary progressive ataxia.
Thought to have an estimated prevalence of ~1:50,000. There is no recognized gender predilection.
Typically present in childhood to adolescence 11. Those with a higher number of trinucleotide repeats (>500) are thought to present at an earlier age and with significantly different clinical features 1.
There are a wide variety of potential clinical manifestations 11:
Genetics
The condition results from an expansion of an unstable GAA trinucleotide repeat in the FXN gene located on chromosome 9q 1,6,11. This gene encodes for frataxin, a protein that has multiple important roles in relation to iron in various tissues of the body, but most prominently the brain, heart and pancreas 11. Friedreich ataxia carries an autosomal recessive inheritance 1.
Microscopic appearance
In the posterior and lateral columns of the spinal cord, there is a loss of myelinated fibers and gliosis.
MRI
In the brain and spinal cord:
may show thinning (reduction in AP diameter) of the cervical cord 2
cerebral and cerebellar atrophy may also be evident 5
DWI is a suitable non-invasive technique to quantify the extent of neurodegeneration in Friedreich ataxia, that appears more extended than previously reported, showing a microstructural involvement of structures such as optic radiation and middle cerebellar peduncles 10
History and etymology
It is named after Nikolaus Friedreich (1825-1882), a German physician.
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1. Schöls L, Amoiridis G, Przuntek H et-al. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain. 1998;120 ( Pt 12): 2131-40. Pubmed citation
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2. Mascalchi M, Salvi F, Piacentini S et-al. Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord. AJR Am J Roentgenol. 1994;163 (1): 187-91. doi:10.2214/ajr.163.1.8010211 - Pubmed citation
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3. Pagani E, Ginestroni A, Della Nave R et-al. Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia. Radiology. 2010;255 (3): 882-9. Radiology (full text) - doi:10.1148/radiol.10091742 - Pubmed citation
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4. Ramos A, Quintana F, DíEz C et-al. CT findings in spinocerebellar degeneration. AJNR Am J Neuroradiol. 1987;8 (4): 635-40. AJNR Am J Neuroradiol (abstract) - Pubmed citation
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5. Junck L, Gilman S, Gebarski SS et-al. Structural and functional brain imaging in Friedreich's ataxia. Arch. Neurol. 1994;51 (4): 349-55. Pubmed citation
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6. Sze G. MR imaging of the spinal cord: current status and future advances. AJR Am J Roentgenol. 1992;159 (1): 149-59. doi:10.2214/ajr.159.1.1609689 - Pubmed citation
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7. Bourgouin PM, Lesage J, Fontaine S et-al. A pattern approach to the differential diagnosis of intramedullary spinal cord lesions on MR imaging. AJR Am J Roentgenol. 1998;170 (6): 1645-9. doi:10.2214/ajr.170.6.9609189 - Pubmed citation
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8. Poulsen SH, SøGaard P, Nielsen-Kudsk JE et-al. Dilated cardiomyopathy in Friedreich's ataxia: 2D echo and tissue-Doppler analysis of left ventricular and atrial function. Eur J Echocardiogr. 2004;4 (4): 331-3. Pubmed citation
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9. Morvan D, Komajda M, Doan LD et-al. Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study. Eur. Heart J. 1992;13 (10): 1393-8. Pubmed citation
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10. Rizzo G, Tonon C, Valentino ML et-al. Brain diffusion-weighted imaging in Friedreich's ataxia. Mov. Disord. 2011;26 (4): 705-12. Mov. Disord. (full text) - doi:10.1002/mds.23518 - Pubmed citation
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11. Cook A, Giunti P. Friedreich's ataxia: clinical features, pathogenesis and management. (2017) British medical bulletin. 124 (1): 19-30. doi:10.1093/bmb/ldx034 - Pubmed
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