Intensive Multimodal Treatment for A Young Adult with Friedreich Ataxia: A Case Report

Grace Battal, Nicolas Pinsault, Berthe Hanna-Boutros. Intensive Multimodal Treatment for A Young Adult with Friedreich Ataxia: A Case Report. International Journal of Physiotherapy and Research, 2023, 11 (3), pp.4508-4516. 10.16965/ijpr.2023.110 . hal-04134585 

 The FRDA patient displayed improvement in all outcome measures. Strength, ataxia severity and functional abilities were enhanced while a higher level of independence was gained. Our observations suggest that an intensive multimodal approach holds potential in the management of FRDA and call for further research.

A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy

A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy; Tyler L Perfitt, Claudia Huichalaf, Renea Gooch, Anna Kuperman, Youngwook Ahn, Xian Chen, Soumya Ullas, Dinesh Hirenallur-Shanthappa, Yutian Zhan, Diana Otis, Laurence O. Whiteley, Christine Bulawa, and Alain Martelli, American Journal of Physiology-Heart and Circulatory Physiology 0 0:0, doi:10.1152/ajpheart.00496.2023 

This modified model reproduced important pathophysiological and biochemical features of FA over a longer timescale than previous cardiac-specific mouse models, offering a larger window for studying potential therapeutics.

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Aguilera, C., Esteve-Garcia, A., Casasnovas, C. et al. Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?. BMC Med Genomics 16, 312 (2023). doi:10.1186/s12920-023-01743-0 

We describe a patient presenting with novel intragenic deletion and an expansion on the FXN gene who shows the typical progression and clinical features of FRDA. We believe that parental sample testing should be performed in all FRDA patients that present an apparent biallelic expansion in order to offer proper genetic counselling.

Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland

Menon, P.J., Yi, T.X., Moran, S. et al. Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland. Cerebellum (2023). doi:10.1007/s12311-023-01640-3 

 This study is the first cross-sectional study on HRQoL in patients with inherited ataxia in Ireland. It highlights high rates of unemployment, difficulty with daily activities and physical functioning limitations, which is worse than comparative international studies. Given the limited therapeutic options currently available, optimising HRQoL is an important aspect of managing ataxia.

Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia

Ilaria Della Valle, Martina Milani, Simona Rossi, Riccardo Turchi, Flavia Tortolici, Valentina Nesci, Alberto Ferri, Cristiana Valle, Daniele Lettieri-Barbato, Katia Aquilano, Mauro Cozzolino, Savina Apolloni, Nadia D'Ambrosi, Loss of homeostatic functions in microglia from a murine model of Friedreich's ataxia, Genes & Diseases, 2023, 101178, doi:10.1016/j.gendis.2023.101178. 

 Although several reports correlated microglia morphology to cerebellar degeneration in FRDA in vivo, this work is the first to provide multilayer evidence (phenomics, transcriptomics, and metabolic analysis) that FRDA microglia are dysfunctional, suggesting a contribution of non-cell autonomous mechanisms in FRDA pathogenesis.

Effectiveness of rehabilitation intervention in persons with Friedreich ataxia

Paparella G, Stragà C, Vavla M, Pesenti N, Merotto V, Martorel GA, Zalunardo S, Armellin M, Comiotto J and Martinuzzi A (2023) Effectiveness of rehabilitation intervention in persons with Friedreich ataxia. Front. Neurol. 14:1270296. doi: 10.3389/fneur.2023.1270296 

 We report that the IR significantly improves motor performance and ataxia symptoms in patients with FRDA. Our study shows significant functional improvement in all the outcome measures used, except for NHPT bilaterally. FARS and SARA scores post-IR are significatively reduced when compared (p < 0.001).

The Cardiac Calcium Handling Machinery is Remodeled in Friedreich's Ataxia

The Cardiac Calcium Handling Machinery is Remodeled in Friedreich's Ataxia, Roman Czornobil, Obada Abou- Assali, Elizabeth Remily- Wood, David R Lynch, Sami F. Noujaim, Bojjibabu Chidipi bioRxiv 2023.11.09.566141; doi:10.1101/2023.11.09.566141 

Conclusion: The development of left ventricular contractile dysfunction in FA is associated with reduced expression of calcium handling proteins and mitochondrial dysfunction.

Aspectos médico-legales del consentimiento en la nueva regulación de la eutanasia. A propósito de un caso

Fernández Resina, Laura, Repositorio Institucional UIB, Treballs dels estudiants, TFG, Facultat de Medicina, Grau en Medicina (GMED). Fecha: 2023 Fecha de depósito: 2023-11-13. 

 El propósito del presente trabajo es analizar el caso de un paciente postadolescente afectado de ataxia de Friedreich que plantea su deseo de morir para estudiar los aspectos relativos a su consentimiento en relación a la eutanasia.

Emerging small molecule inhibitors of Bach1 as therapeutic agents: Rationale, recent advances, and future perspectives

Hushpulian DM, Kaidery NA, Dutta D, Sharma SM, Gazaryan I, Thomas B. Emerging small molecule inhibitors of Bach1 as therapeutic agents: Rationale, recent advances, and future perspectives. Bioessays. 2023 Nov 2:e2300176. doi: 10.1002/bies.202300176. Epub ahead of print. PMID: 37919861. 

FDA-approved Nrf2 activators, Tecfidera and Skyclarys for patients with multiple sclerosis and Friedreich's ataxia, respectively, are non-specific alkylating agents exerting side effects. Nrf2 is under feedback regulation through its target gene, transcriptional repressor Bach1.

Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica

Alfaro-Olivera, María, Calle-Nuñez, Adriana, Uribe-León, Alfonso, Araujo-Aliaga, Ismael, Aguirre-Quispe, Wilfor, Sarapura-Castro, Elison, & Cornejo-Olivas, Mario. (2023). Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica. Revista de Neuro-Psiquiatría, 86(1), 45-61. Epub 27 de abril de 2023. doi:10.20453/rnp.v86i1.4466 

En esta revisión, se actualizan aspectos epidemiológicos, fisiopatológicos y clínico-terapéuticos y se conduce una búsqueda sistemática de casos de AF reportados en Latinoamérica. La prevalencia de AF en poblaciones caucásicas es estimada entre 2 y 5 casos por 100 000 habitantes. En Latinoamérica se han publicado 35 estudios que reúnen 1481 casos en 6 países.