Understanding PKAN: The Opponent We Are Fighting

To understand why we are pressing "Full Court" for a cure, it helps to understand exactly what we are up against.

PKAN stands for Pantothenate Kinase-Associated Neurodegeneration.

It is a genetic disorder that falls under a broader umbrella of diseases called NBIA (Neurodegeneration with Brain Iron Accumulation). While the name is a mouthful, the mechanics of the disease can be understood by looking at how our bodies create energy.

The Science: A Broken Fuel Line

Every cell in the human body needs energy to function. To get that energy, our bodies rely on a specific enzyme (a worker protein) to take Vitamin B5 and convert it into a vital fuel called Coenzyme A.

In children with PKAN, there is a "typo" in their genetic code—specifically in the PANK2 gene.

Think of the PANK2 gene as the instruction manual for that worker protein. Because of the typo, the worker doesn't know how to process Vitamin B5 correctly. This causes two major problems:

Low Fuel: The brain doesn't get the Coenzyme A (fuel) it needs to protect nerve cells.
Iron Buildup: Without this process working smoothly, iron begins to accumulate in specific areas of the brain where it shouldn't be. This iron eventually acts like "rust," damaging the sensitive pathways that control movement.

The "Eye of the Tiger"

One of the most unique and recognizable aspects of PKAN is what doctors see when they look at an MRI of the brain.

The iron accumulation happens in a deep part of the brain called the globus pallidus. On an MRI scan, the dark accumulation of iron surrounds a bright central spot of healthy tissue. Doctors call this the "Eye of the Tiger" sign, as it looks strikingly similar to the eye of a big cat.

How PKAN Affects the Body

Because the damage occurs in the part of the brain that acts as the "control center" for muscle movement, the symptoms are largely physical. While every child is different, common challenges include:

Dystonia: This is the most common symptom. It involves involuntary muscle contractions that can cause twisting, repetitive movements, or abnormal postures.
Dysarthria: Difficulty speaking or articulating words clearly.
Dysphagia: Difficulty swallowing.
Vision changes: Some individuals experience retinal degeneration.

Despite these physical hurdles, it is important to know that cognitive function is often preserved. Kids with PKAN are bright, aware, and full of personality—they are just trapped in a body that won't listen to their commands.

The Two Types of PKAN

Generally, PKAN appears in two forms, though the symptoms often overlap:

Classic PKAN: Symptoms appear early (usually before age 6) and progress more rapidly. This often starts with clumsiness or walking difficulties.
Atypical PKAN: Symptoms appear later (teens or adulthood) and tend to progress more slowly. Speech changes or psychiatric symptoms often appear first.

Why We Need a Full Court Press

Currently, there is no cure for PKAN. Treatments are focused on managing symptoms—relaxing the muscles and keeping the patients comfortable.

But there is hope.

Scientists are working harder than ever to find solutions. Research is currently being done on gene therapy, enzyme replacement, and compounds that can bypass the "broken" step in the fuel line. By funding research, we can help move these trials from the lab to the patients who need them most.

Learn More & Resources

If you want to dive deeper into the science or connect with the global community fighting this disease, we recommend the following resources:

NBIA Disorders Association - PKAN Page: The leading organization for support and research regarding NBIA disorders.
PKANready: A global patient registry dedicated to getting the PKAN community ready for clinical trials.
NORD (National Organization for Rare Disorders): A detailed overview of the disorder and advocacy resources.