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Table 2 Cardinal clinical symptoms associated with deficiencies in frataxin, vitamin E, ABCB7 (mitochondrial iron overload), GLRX5 (impaired ISC synthesis) and ISCU (impaired ISC synthesis)a

From: Friedreich's ataxia: the vicious circle hypothesis revisited

Clinical symptoms Frataxin deficiency Vitamin E deficiency ABCB7 deficiency GLRX5 deficiency ISCU deficiency
Ataxia +++ +++ +++ - -
Cardiomyopathy + + - - -
Diabetes mellitus + (+) - + -
Myopathy (+) (+) - - +++
Sideroblastic anaemia - - +++ +++ -
Hepatosplenomegaly - - - ++ -
Lactic acidosis (+) (+) - - +++
  1. a+++: hallmark of the disease; ++: present in most cases; +: present only in a subset of patients or late in the course of the disease; (+): reported occasionally; -: usually absent. Disease symptoms shared with Friedreich's ataxia are represented using a similar grey colour.