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Pantothenate kinase-associated neurodegeneration


Other Names for this Disease

  • Hallervorden-Spatz disease
  • NBIA
  • Neuroaxonal dystrophy, late infantile
  • Neurodegeneration with brain iron accumulation
  • PKAN
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I am looking for treatment information for PKAN.   My brother was diagnosed with it a little over a year ago. It started about age 3 with all the classic signs. He now is in very bad shape. I am looking for any help. He may start a clinical trial of deferiprone treatment if approved by the FDA.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is pantothenate kinase associated neurodegeneration (PKAN)?

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, movement disorder characterized by a progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is generally separated into classic and atypical forms. Children with classic PKAN develop symptoms in the first ten years of life. The atypical form of PKAN usually occurs after the age of ten and progresses more slowly. All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. PKAN is inherited in an autosomal recessive manner and is caused by changes (mutations) in the PANK2 gene.[1][2]
Last updated: 9/23/2011

What are the signs and symptoms of pantothenate kinase associated neurodegeneration (PKAN)?

There are two forms of PKAN, classical and atypical. Symptoms of classic PKAN develop during early childhood, usually before age 10. The first symptom is often difficutly with movement and walking. Children are often first considered clumsy as their legs can be rigid, dystonic (an abnormality of muscle tone) and have involuntary muscle spasms (spasticity); these symptoms worsen over time.  People can plateau for long periods of time and then undergo intervals of rapid deterioration, often lasting one to two months. Children usually lose the ability to walk by 10-15 years after the beginning of symptoms.[3] 

Many individuals also experience limited speech and may have enough trouble with chewing and swallowing that a feeding tube becomes necessary. Two-thirds of children with classical PKAN develop peripheral (side) vision loss and night blindness due to retinal degeneration. Cognitive functioning varies from person to person and can range from high average to below average.[3] Premature death does occur; however, live span is variable. With improvements in medical care, a greater number of affected individuals are living into adulthood.[2]

All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder.[1]

Features of the atypical form usually progress more slowly and appear within the first three decades of life. Signs and symptoms vary, but the progression in the atypical form is usually slower. Symptoms are usually marked by speech difficulty such repetition of words or phrases (palilalia), rapid speech (tachylalia), and poor articulation/slurring (dysarthria). Psychiatric symptoms such as behavioral problems, personality changes, and depression are more commonly observed. While movement problems are a common feature, it usually develops later. Loss of independent walking often occurs 15-40 years after the initial development of symptoms. Retinal degeneration is rare in the atypical form.[2]
Last updated: 9/23/2011

Does classical pantothenate kinase-associated neurodegeneration (PKAN) always have a rapid progression of the condition?

Although age of onset does appear to be correlated with rate of progression, there are some cases in which onset occurs during the early teens with rapid progression. Conversely, there are adults with confirmed PKAN living into their 30s to 50s who had onset before age 10.  Therefore, an individual's rate of progression in the immediate years following onset may also provide valuable information about the long term disease course.[3]
Last updated: 9/23/2011

How might pantothenate kinase-associated neurodegeneration (PKAN) be treated?

Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study.[3] 
Last updated: 9/23/2011

References
Other Names for this Disease
  • Hallervorden-Spatz disease
  • NBIA
  • Neuroaxonal dystrophy, late infantile
  • Neurodegeneration with brain iron accumulation
  • PKAN
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.