PKAN pathogenesis and treatment.

Susan J Hayflick, Suh Young Jeong, Ody C M Sibon

Journal: Molecular genetics and metabolism 2022;137(3):283-291

PMID: 36240582

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Abstract

Studies aimed at supporting different treatment approaches for pantothenate kinase-associated neurodegeneration (PKAN) have revealed the complexity of coenzyme A (CoA) metabolism and the limits of our current knowledge about disease pathogenesis. Here we offer a foundation for critically evaluating the myriad approaches, argue for the importance of unbiased disease models, and highlight some of the outstanding questions that are central to our understanding and treating PKAN.

Address: Departments of Molecular & Medical Genetics, Pediatrics, and Neurology, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: [email protected].; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.; Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, 9713 AV, the Netherlands.

DOI: 10.1016/j.ymgme.2022.09.011

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MeSH Terms: Humans, Pantothenate Kinase-Associated Neurodegeneration, Coenzyme A, Phosphotransferases (Alcohol Group Acceptor)