Friedreich Ataxia (Book)

Williams CT, Maheshwary A.; Friedreich Ataxia. 2026 Mar 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 33085346. 

Friedreich ataxia (FRDA) represents the most common inherited form of ataxia, accounting for approximately 50% of all ataxia cases. Currently, the prevalence in the United States ranges from 1 in 30,000 to 50,000 individuals, with higher rates in Europe. First described in 1863 by the German clinician Nikolaus Friedreich...

Home-Based Telerehabilitation for Core Stability in Hereditary Ataxia: Feasibility and Preliminary Effects of a Pilot RCT

Masbernat-Almenara M, Peláez-Hervás S, Fernández-Lago H, Serra-Rusiñol L, Rubí-Carnacea F, Martínez-Navarro O, Tersa-Miralles C, Muñoz E, Rubinat-Arnaldo E, Cabanas-Valdés R. Home-Based Telerehabilitation for Core Stability in Hereditary Ataxia: Feasibility and Preliminary Effects of a Pilot RCT. NeuroRehabilitation. 2026 May;58(3):440-452. doi: 10.1177/10538135261431333. Epub 2026 Apr 8. PMID: 41949495. 

Core stability exercises (CSE) have shown efficacy in improving trunk function in individuals with hereditary ataxia (HA), but adherence to home programs is often low. Telerehabilitation (TR) could facilitate remote program delivery.

MuFaDDG: A Sequence-Based Multiscale Feature Fusion Framework for Protein Stability Changes Prediction

Gong J, Ma P, Ren Z, Li S, Fu Z, Sun P, Ni M, Bo X. MuFaDDG: A Sequence-Based Multiscale Feature Fusion Framework for Protein Stability Changes Prediction. Bioinformatics. 2026 Apr 29:btag196. doi: 10.1093/bioinformatics/btag196. Epub ahead of print. PMID: 42057285.  

The study introduces MuFaDDG, a sequence-based tool for predicting protein stability changes. Frataxin was used as the primary case study (via the CAGI5 challenge) to validate the model's performance. MuFaDDG achieved high accuracy (ACC: 0.81) in predicting how mutations affect frataxin's stability, outperforming existing state-of-the-art methods.Conclusion: The model proves highly effective at identifying destabilizing mutations in frataxin, which is critical for understanding diseases like Friedreich's Ataxia.