Pantothenate kinase-associated neurodegeneration

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.

Last updated on 05-01-20

What is pantothenate kinase associated neurodegeneration (PKAN)?

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease characterized by a progressive degeneration of the nervous system (neurodegenerative disorder) and buildup of iron in the brain. PKAN is usually classified into two forms: classic and atypical. Classic PKAN causes 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 a buildup 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 mutations in the PANK2 gene. Treatment depends on the symptoms, and may include medication (such as botulinum toxin), surgery, deep brain stimulation and physical therapy. Research for a more effective treatment is ongoing.

Last updated on 05-01-20

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

The treatment of patients with PKAN is mostly symptomatic, and may include:

  • Medication: The tremors best respond to dopaminergic agents. Benzodiazepines are used to improve muscular contraction and twisting and writhing movements. Dystonia is treated with oral trihexyphenidyl, oral baclofen or a baclofen pump, and oral clonazepam. Intramuscular botulinum toxin is used for muscle spasms, especially in treating a limited body region (injections in the facial muscles can greatly improve speech and eating abilities). Methscopolamine bromide can be used for excessive drooling.
  • Surgical procedures: Procedures to destroy specific parts of the brain, the pallidus (ablative pallidotomy) or the thalamus (thalmotomy) may provide temporary relief for dystonia.
  • Deep brain stimulation: A procedure where a medical device called a brain pacemaker is implanted to send electric impulses to specific parts of the brain for the treatment of movement and mood disorders.
  • Services for the blind and educational programs.
  • Physical therapy and occupational therapy to maintain normal joint mobility
  • Adaptive aids (walker, wheelchair) for gait abnormalities.
  • Speech therapy and/or communication devices.

Drugs that reduce the levels of iron in the body (iron chelation) may be effective in some cases but more studies are needed. Supplements of vitamin B5 (pantothenate) may be helpful in people with the atypical PKAN but there are not enough studies confirming that it is effective.

A recent study with one patient using a medication known as fosmetpantotenate, which restores the CoA levels (a helper molecule, needed for the activation of several enzymes) decreased in this disease, showed good results.

Last updated on 05-01-20

Clinical Research Resources

NBIA Disorders Association

The NBIA Disorders Association posts information on the latest clinical trials and research studies where you can learn about opportunities to take part in research.

Last updated on 04-27-20

Other Conferences

Fifth International NBIA Disorders Association Family Conference

Fifth International NBIA Disorders Association Family Conference
May 29 - 31, 2009
Indianapolis, Indiana
http://www.nbiadisorders.org/

Last updated on 04-27-20

Selected Full-Text Journal Articles

Pantothenate kinase-associated neurodegeneration - journal article

A Gregory1, B J Polster1, and S J Hayflick. Clinical and genetic delineation of neurodegeneration with brain
iron accumulation
. J Med Genet. 2009 February; 46(2): 73–80.

Last updated on 04-27-20

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3181 S.W. Sam Jackson Park Rd. L103
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Email: info@NBIAcure.org Url: http://nbiacure.org/

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