The NBIA Research Group at OHSU is embarking on a 5-year natural history study of pantothenate kinase-associated neurodegeneration (PKAN) called PKANready. PKAN is a genetic neurodegenerative disorder with the hallmark features of abnormal brain iron accumulation, progressive dystonia, and retinal degeneration. PANK2 is the only gene in which mutations are known to cause PKAN. PKAN is an ultra-rare disorder with an incidence estimated at about 1/million. The PANK2 gene was discovered by our team and collaborators in 2001. There is still only limited data available on the natural history of PKAN, and it is derived from small, short-term clinical studies and case reports.
The primary aims of PKANready are to (1) longitudinally document the natural history of PKAN by collecting clinical, imaging, and biomarker data and (2) to identify markers of disease progression for use in clinical trials and other studies. We will investigate potential biomarkers, clinical milestones of progression, and other clinical and imaging markers.
Subjects with a diagnosis of PKAN made by brain MRI and/or molecular analysis of the PANK2 gene will qualify for the study. If your patient has not had PANK2 genetic testing, you may order the test using the link below to our lab.