Friedreich ataxia

Friedreich ataxia (FA) is the most common inherited progressive ataxia. It carries an autosomal recessive inheritance 1.

Thought to have an estimated prevalence of ~1:50,000. There is no recognised gender predilection.

Typically present in childhood to adolescence. Those with a higher number of repeats (>500) are thought to present at an earlier age and with significantly different clinical features 1.

The condition results from an expansion of an unstable GAA trinucleotide repeat located in chromosome 9q 1,6.

In the posterior and lateral columns of the spinal cord, there is a loss of myelinated fibres and gliosis.

Associations
MRI brain/spine
  • 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 cerebral peduncle 10

It is named after Nikolaus Friedreich: German physician (1825-1882).

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Article Information

rID: 10496
Tags: cases, spine
Synonyms or Alternate Spellings:
  • Friedreich ataxia (FA)
  • Friedreich ataxia (FRDA)
  • Friedreich's ataxia

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