Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.

Symptoms

Newline Maker

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.[1] 

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.[1] 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.[3]

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

References
  1. Gregory, A. Polster, B J, and Hayflick, S J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. Journal of Medical Genetics. February 2009;
  2. Gregory A & Hayflick SJ. Pantothenate Kinase-Associated Neurodegeneration. GeneReviews. March 2010; http://www.ncbi.nlm.nih.gov/books/NBK1490/. Accessed 9/23/2011.
  3. Pantothenate kinase-associated neurodegeneration. Genetics Home Reference. October 2006; http://www.ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegeneration. Accessed 9/23/2011.


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.