Patients can develop a cardiomyopathy associated with heart failure and death.
• A single gene defect decreases expression of FXN and may be amenable to therapy.
• A need exists for greater basic and clinical investigations to advance therapies.
Thursday, July 14, 2022
Cardiovascular Research in Friedreich Ataxia
R. Mark Payne; J Am Coll Cardiol Basic Trans Science. null2022, 0 (0); doi:10.1016/j.jacbts.2022.04.005
Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation
Imbault, Virginie; Dionisi, Chiara; Naeije, Gilles; Communi, David; Pandolfo, Massimo (2022). Frontiers. Collection. doi:10.3389/fnins.2022.885313
This study supports the hypothesis that the quantitative analysis CSF proteins may provide robust biomarkers for clinical trials as well as shed light on pathogenic mechanisms. Interestingly, DEPs in FA patients CSF point to neurodegeneration and neuroinflammation processes that may respond to treatment.
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