Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia. Sarah C. Milne, Darren R. Hocking, Nellie Georgiou-Karistianis, Anna Murphy, Martin B. Delatycki, Louise A. Corben; The Cerebellum July 2014

Spatiotemporal gait parameters are a sensitive measure of gait decline in individuals with FRDA and should be considered for inclusion in intervention studies whilst participants are still ambulant.

Coexistence of tuberous sclerosis and Friedreich ataxia

Coexistence of tuberous sclerosis and Friedreich ataxia. Melanie Walker, Ali Samii, Thomas Bird; Journal of the Neurological Sciences Volume 221, Issue 1 , Pages 91-93, 15 June 2004

"The occurrence of two mutations on the same chromosome is probably coincidental but emphasizes the importance of searching for additional genetic causes when the phenotype does not fit with an established genetic diagnosis."