Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Table 1 Clinical features of the patient according to what is described for typical FRDA manifestations

Clinical features associated with Friedreich Ataxia†	Patient with expansion / deletion of 5’UTR and exons 1–2 in the FXN gene
Onset before age 25 years	+
Dysarthria	+
Decrease in/loss of position sense and/or vibration sense in lower limbs	+
Pyramidal weakness of the legs	+
Extensor plantar response	Indifferent
Muscle weakness	+
Progressive afferent and cerebellar ataxia of gait and all four limbs	+
Scoliosis	+
Pes cavus	+
Nystagmus	-
Cardiomyopathy	-
Glucose intolerance	-
Diabetes mellitus	-
Optic atrophy and/or deafness	-

†Clinical features of Friedreich ataxia described by Bidichandani et al., 1993 and Corben et al., 2014. +, present; -, not present

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