Genes, Vol. 14, Pages 1654: Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype
In conclusion, YG8sR mice have a slight phenotype, and injecting them with an AAV-PHP.B expressing an shRNA targeting frataxin does increase their phenotype. The YG8-800 mice have a phenotype comparable to the human ataxic phenotype. (Source: Genes)
Source: Genes - August 19, 2023 Category: Genetics & Stem Cells Authors: Camille Bouchard Catherine G érard Solange Gni-fiene Yanyab é Nathalie Majeau Malek Aloui Gabrielle Buisson Pouir é Yameogo Vanessa Couture Jacques P. Tremblay Tags: Article Source Type: research
Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app
Introduction
Friedreich ataxia (FA) is the most common hereditary ataxia in Europe, characterised by progressively worsening movement and speech impairments with a typical onset before the age of 25 years. The symptoms affect the patients’ health-related quality of life (HRQoL) and psychosocial health. FA leads to an increasing need for care, associated with an economic burden. Little is known about the impact of FA on daily lives and HRQoL. To fill that gap, we will assess patient-reported, psychosocial and economic outcomes using momentary data assessment via a mobile health application (app).
Methods and analysis...
Source: BMJ Open - August 1, 2023 Category: General Medicine Authors: Buchholz, M., Weber, N., Borel, S., Sayah, S., Xie, F., Schulz, J. B., Reetz, K., Boesch, S., Klopstock, T., Karin, I., Schöls, L., Grobe-Einsler, M., Klockgether, T., Davies, E. H., Schmeder, M., Nadke, A., Michalowsky, B. Tags: Open access, Neurology Source Type: research
FXN gene methylation determines carrier status in Friedreich ataxia
Conclusion
FXN DNA methylation reliably detects the GAA-TRE in the heterozygous state and offers a robust alternative strategy to diagnose FRDA due to compound heterozygosity and to identify asymptomatic heterozygous carriers of the GAA-TRE. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 21, 2023 Category: Genetics & Stem Cells Authors: Lam, C., Gilliam, K. M., Rodden, L. N., Schadt, K. A., Lynch, D. R., Bidichandani, S. Tags: Open access Neurogenetics Source Type: research
Identification of Safe and Effective Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's Ataxia
Human Gene Therapy, Ahead of Print. (Source: Human Gene Therapy)
Source: Human Gene Therapy - July 4, 2023 Category: Genetics & Stem Cells Authors: Carlos Munoz-Zuluaga Monica Gertz Melissa Yost-Bido Alessandria Greco Nicholas Gorman Alvin Chen Vikrum Kooner Jonathan B. Rosenberg Bishnu P. De Stephen M. Kaminsky Alain Borczuk Rodolfo J. Ricart Arbona Heather R. Martin Sebastien Monette Richie Khanna Source Type: research
