Pantothenate Kinase-Associated Neurodegeneration

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Pantothenate Kinase-Associated Neurodegeneration is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary

Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA), a group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle tone, and postural disturbances (extrapyramidal). These disorders show radiographic evidence of iron accumulation in the brain. PKAN is typically diagnosed by the characteristic finding on magnetic resonance imaging (MRI) called the "eye-of-the-tiger" sign, which indicates accumulation of iron in the brain in a characteristic pattern.

PKAN is inherited as an autosomal recessive genetic condition and is described as being classical or atypical. Classic PKAN typically appears in early childhood with symptoms that worsen rapidly. Atypical PKAN, which progresses more slowly, appears later in childhood or early adolescence. Some people have been diagnosed in infancy or adulthood and some of those affected have characteristics that are between the two categories.

Introduction

PKAN was first described in 1922 by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters exhibited progressively increasing dementia and poor articulation and slurred speech (dysarthria). The name Hallervorden-Spatz syndrome became discouraged and was replaced with neurodegeneration with brain iron accumulation because of concerns regarding Dr. Hallervorden's and Dr. Spatz's affiliation with the Nazi regime and their unethical activities surrounding how they obtained many autopsy specimens.

Supporting Organizations

Advocacy for Neuroacanthocytosis Patients

32 Launceston Place
London, W8 5RN
United Kingdom
Tel: 4402079372938
Email: ginger@naadvocacy.org
Website: http://www.naadvocacy.org

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NBIA Disorders Association

2082 Monaco Court
El Cajon, CA 92019-4235
Tel: (619)588-2315
Fax: (619)588-4093
Email: info@nbiadisorders.org
Website: http://www.nbiadisorders.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  3/21/2016
Copyright  2013 National Organization for Rare Disorders, Inc.

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Pantothenate Kinase-Associated Neurodegeneration