TY  - JOUR
AU  - Reetz, Kathrin
AU  - Lischewski, Stella A
AU  - Dogan, Imis
AU  - Didszun, Claire
AU  - Pishnamaz, Miguel
AU  - Konrad, Kerstin
AU  - Marx-Schütt, Katharina
AU  - Farmer, Jennifer
AU  - Lynch, David R
AU  - Corben, Louise A
AU  - Pandolfo, Massimo
AU  - Schulz, Jörg B
AU  - Costa, Ana Sofia
AU  - Romanzetti, Sandro
AU  - Dadsena, Ravi
AU  - Praster, Maximillian
AU  - Clavel, Thomas
AU  - Jankowski, Vera
AU  - Jankowski, Joachim
AU  - Pabst, Oliver
AU  - Marx, Nikolaus
AU  - Möllmann, Julia
AU  - Jacobsen, Malte
AU  - Dukart, Juergen
AU  - Eickhoff, Simon
AU  - Hilgers, Ralf-Dieter
TI  - Friedreich's ataxia—a rare multisystem disease
JO  - The lancet
VL  - 24
IS  - 7
SN  - 1474-4422
CY  - London
PB  - Lancet Publ. Group
M1  - FZJ-2025-02935
SP  - 614 - 624
PY  - 2025
AB  - Friedreich's ataxia is a rare autosomal recessive neurodegenerative disease. Most patients have a homozygous GAA repeat expansion in the FXN gene, resulting in a deficiency of the mitochondrial protein frataxin. Disease onset occurs typically in adolescence but can vary widely, ranging from early childhood to late adulthood. Friedreich's ataxia is increasingly recognised as a multisystem disorder, affecting not only the nervous system, but also the heart and musculoskeletal system, and metabolism. Common extraneural manifestations include cardiomyopathy, which is the most common cause of mortality, and also scoliosis and diabetes. Despite research advances, the phenotypical heterogeneity of patients with Friedrich's ataxia remains inadequately explained by current knowledge of the underlying genetics. The approval of omaveloxolone by the US Food and Drug Administration and the European Medicines Agency has been a pharmacological milestone; however, further research addressing complex interorgan interactions is crucial for a better understanding of the multisystem nature of Friedreich's ataxia and the development of targeted treatment approaches. 
LB  - PUB:(DE-HGF)16
C6  - 40541211
UR  - <Go to ISI:>//WOS:001520810300012
DO  - DOI:10.1016/S1474-4422(25)00175-9
UR  - https://juser.fz-juelich.de/record/1043578
ER  -