Pathology and treatment methods in pantothenate kinase-associated neurodegeneration

The purpose of this review is to present current scientific reports on the pathophysiology, diagnosis and treatment of pantothenate kinase-associated neurodegeneration (PKAN).

The condition is caused by a mutation in the PANK2 gene, which results in iron accumulation in the brain and changes in the functioning of biochemical pathways dependent on coenzyme A. There are two clinical types of PKAN, which differ in the time of onset of symptoms and speed of disease progression. Imaging studies, specifically magnetic resonance (MR), and genetic testing are commonly used in the diagnosis process. The characteristic radiological image seen in T2-MR images is the "eye of the tiger". Patients with PKAN can only receive treatment for symptoms because there are no effective treatment methods available. Pharmacological methods include symptomatic medications, such as pregabalin, gabapentin, or botulinum toxin, and disease-modifying agents, such as iron chelators. Surgical procedures or deep brain stimulation as alternative methods can also be considered. The review presents data from studies published between 2017 and 2024.

There are many studies on the pathophysiology and treatment methods for PKAN patients, but the results are still limited. The future of PKAN treatment will be characterized by personalized treatment that is based on the patient's genetic and environmental factors. Further investigation of these is necessary.