Sensoren in der Kleidung plus KI: Erfolgversprechende Diagnosetechnologie: Bei Friedreich-Ataxie und Duchenne-Muskeldystrophie getestet

Patzer, K.-H. (2023). Sensoren in der Kleidung plus KI: Erfolgversprechende Diagnosetechnologie: Bei Friedreich-Ataxie und Duchenne-Muskeldystrophie getestet. MMW Fortschritte der Medizin, 165(S1), 46–46. doi:10.1007/s15006-023-2393-2

CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum for Friedreich’s Ataxia disease modeling

Gentili, H. G., Pignataro, M. F., Olmos, J., Pavan, M. F., Ibanez, L. I., Santos, J., & Velazquez, F. (2023). CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum for Friedreich’s Ataxia disease modeling. doi:10.1101/2023.02.27.530330

Here we present the development of a new model system for Friedreich's Ataxia (FA) using D. discoideum (Dd). FA is a rare disease caused by disfunction of frataxin (FXN), a protein involved in Fe-S cluster assembly machinery.

Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia

Kerestes, R., Cummins, H., Georgiou-Karistianis, N., Selvadurai, L. P., Corben, L. A., Delatycki, M. B., Egan, G. F., & Harding, I. H. (2023). Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia. Journal of neurology, 10.1007/s00415-023-11637-x. Advance online publication. https://doi.org/10.1007/s00415-023-11637-x

Compared to controls, people with FRDA showed significantly reduced connectivity between the anterior cerebellum and bilateral pre/postcentral gyri, and between the superior posterior cerebellum and left dorsolateral PFC. Greater disease severity correlated with lower connectivity in these circuits. Lower anterior cerebellum-motor cortex functional connectivity also correlated with slower speeded finger tapping and less fractional anisotropy in the superior cerebellar peduncles, internal capsule, and precentral white matter in the FRDA cohort. There were no significant between-group differences in inferior posterior cerebellar or dentate nucleus connectivity. This study indicates that altered cerebello-cerebral functional connectivity is associated with functional status and white matter damage in cerebellar efferent pathways in people with FRDA, particularly in motor circuits.