Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia

Sarah C Milne1, Louise A Corben, Melissa Roberts, David Szmulewicz, J Burns, Anneke C Grobler, Shannon Williams, Jillian Chua, Christina Liang, Phillipa J Lamont, Alison C Grootendorst, Libby Massey, Carolyn Sue, Kim Dalziel, Desiree LaGrappe, Liz Willis, Aleka Freijah, Paul Gerken, Martin B Delatycki. BMJ Open 2020;10:e040230. doi: 10.1136/bmjopen-2020-040230

Emerging evidence indicates that rehabilitation can improve ataxia, mobility and independence in everyday activities in individuals with hereditary cerebellar ataxia. However, with the rarity of the genetic ataxias and known recruitment challenges in rehabilitation trials, most studies have been underpowered, non-randomised or non-controlled. This study will be the first, appropriately powered randomised controlled trial to examine the efficacy of an outpatient and home-based rehabilitation programme on improving motor function for individuals with hereditary cerebellar ataxia.

Effects of Fe2+/Fe3+ Binding to Human Frataxin and Its D122Y Variant, as Revealed by Site-Directed Spin Labeling (SDSL) EPR Complemented by Fluorescence and Circular Dichroism Spectroscopies

Doni, D.; Passerini, L.; Audran, G.; Marque, S.R.A.; Schulz, M.; Santos, J.; Costantini, P.; Bortolus, M.; Carbonera, Int. J. Mol. Sci. 2020, 21, 9619. doi:10.3390/ijms21249619 

 The data reported in this study reveal that the currently reported binding stoichiometries should be taken with caution. The use of a spin label resistant to reduction, as well as the comparison of the binding effect of Fe2+ in wild type and in the pathological D122Y variant of frataxin, allowed us to characterize the Fe2+ binding properties of different protein sites and highlight the effect of the D122Y substitution on the surrounding residues. We suggest that both Fe2+ and Fe3+ might play a relevant role in the context of the proposed FXN physiological functions.