This website provides information on patients with mutations in the PANK2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in PANK2 gene is a multisystem disorder characterized by progressive dystonia, spasticity, dysarthria, and retinal degeneration. The disorder caused by PANK2 mutations is called pantothenate kinase-associated neurodegeneration or PKAN. Classic PKAN has early onset with rapid progression, while atypical disease has later onset and is more slowly progressive. In both forms, the eye-of-the-tiger sign on T2-weighted MRI is pathognomonic for the disease.

Not all individuals with a mutation in the PANK2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PANK2 gene.

Alison Freed, BA, Oregon Health & Science University, Portland, USA, freeal@ohsu.edu

Allison Gregory, MS, Oregon Health & Science University, Portland, USA, gregorya@ohsu.edu

Susan J. Hayflick, MD, PhD, Oregon Health & Science University, Portland, USA, hayflick@ohsu.edu