Friedreich’s ataxia
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28.1.09
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You are here: Home » Pathology Notes » Friedreich’s ataxia
AR, males > females, onset usually in 1st decade of life
First presents with a gait ataxia
Associated with cardiac abnormalities, and many of these patients die of arrhythmias
Also associated with a trinucleotide repeat
The gene for Fretaxin is found on chromosome 9
If the repeat GAA is present, it becomes expanded and leads to ataxia
Degeneration of posterior columns of spinal cord and the corticospinal tracts; both myelin and axons are affected
Category: Pathology Notes
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