Late onset friedreich ataxia presented with spastic paraparesis

G. PSIMMENOS, N. Grigoriadis, D. Parisis, T. Afrantou, P. Ioannidis; Thessaloniki/GR; (Poster POD416) EAN Congress 2017 in Amsterdam

We report two cases , a 56 year old male patient and a 29 year old female patient. In both cases examination revealed typical clinical symptoms of the disease such as gait-limb ataxia , impaired tandem gait, severe swaying on testing for Romberg sign. There was no history of weakness or numbness. The uncommon findings in both of them were the exaggerated deep tendon reflexes and that the symptoms appeared at such an advanced age(>26 years old).That was the reason why both patients initially underwent genetic testing for other genetic disorders(spinocerebellar ataxia SCA). Genetic testing disclosed expanded GAA repeat length of FTX gene confirming a diagnosis of FA.
These cases highlight that the existence of increased tendon reflexes, although unusual is not incompatible with FA and thus should not prevent the clinician to consider it as a possible diagnosis when the rest clinical picture, the personal-family history and the neurological signs are in keeping with diagnosis of FA



Late onset friedreich ataxia presented with spastic paraparesis