PKAN (Pantothenate kinase-associated neurodegeneration)

• PKAN is a rare, genetic, and life-threatening neurological condition that typically begins in early childhood.
• Iron accumulates on the area of the rain that controls movement.
• Patients may lose their ability to walk, speak, swallow (and see).
• Estimated to affect up to 5,000 people worldwide.
• No FDA-approved treatment and currently, only symptoms can be managed.

Estimated to affect only up to 5,000 people worldwide, Pantothenate Kinase-Associated Neurodegeneration, or PKAN, is a rare and life-threatening genetic disorder that typically begins in early childhood. There are no approved treatment options for this progressively debilitating disorder and current therapeutic strategies are limited to symptom management.

PKAN is the most common condition among a group of neurodegenerative disorders that are associated with abnormal iron accumulation on the brain, known as NBIA. In NBIA disorders, iron accumulates in the basal ganglia, the part of the brain that helps to regulate movement. As a result, people suffering from PKAN may experience sustained muscle contraction that leads to abnormal posture (dystonia), rigidity, problems swallowing (dysphagia), twisting and writhing, and visual impairment.

PKAN patients may lose their ability to walk, speak, swallow, and see, all of which may bring about significant challenges to daily living.

PKAN is suspected when a characteristic pattern is seen on a brain MRI. PKAN patients usually have iron accumulation in a specific part of the brain called the globus pallidus, and these accumulations cause a radiographic pattern commonly referred to as the “eye of the tiger.” This finding, along with the presence of neurologic symptoms, is the basis for a PKAN diagnosis.

The following organization may be a resource for information and support for people with PKAN and those around them:

NBIA Disorders Association:

In its drive to find a cure for NBIA, this organization’s mission is to provide support to families, educate the public and accelerate research with collaborators from around the world. Among its many goals, the NBIA aims to provide a supportive environment for people affected by these disorders, while increasing recognition of the disorders, promoting early diagnosis and access to optimal care. In addition, the organization is committed to driving research to ultimately find a cure for NBIA disorders.