This website provides information on patients with mutations in the PLA2G6 gene, including clinical data, molecular data, management and research options. The forms of PLAN falling under this category are infantile PLAN (or infantile neuroaxonal dystrophy), juvenile PLAN, and adult PLAN.

The syndromes caused by mutations in the PLA2G6 gene are multisystem disorders that vary by age of onset. Infantile and juvenile PLAN involve developmental delay, regression, and progression of spasticity, dystonia, and ophthalmological changes.  Adult PLAN is dominated by parkinsonism, dystonia, and neuropsychiatric changes.

Not all individuals with a mutation in the PLA2G6 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 PLA2G6 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