Friedreich’s ataxia

on 28.1.09 with 0 comments

  • 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



Post a Comment