Neurodegeneration with Brain Iron Accumulation Type 1

Important
It is possible that the main title of the report Neurodegeneration with Brain Iron Accumulation Type 1 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Hallervorden-Spatz Syndrome
HSS
Pantothenate Kinase Associated Neurodegeneration (PKAN)
Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus
NBIA1

Disorder Subdivisions

None

General Discussion

Neurodegeneration with Brain Iron Accumulation Type 1 (Hallervorden-Spatz syndrome) is a rare, inherited, neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). Recently, one of the genetic causes was identified; however, there are probably other causative genes that exist that have not yet been found. Approximately 50% of individuals with a clinical diagnosis of NBIA1 have gene mutations in PANK2, which helps to metabolize vitamin B5.

The common feature among all individuals with NBIA1 is iron accumulation in the brain, along with a progressive movement disorder. Individuals can plateau for long periods of time and then undergo intervals of rapid deterioration. Symptoms may vary greatly from case to case, partly because the genetic cause may differ between families. There are likely different genes that cause NBIA1 and furthermore different mutations within a gene that could lead to a more or less severe presentation. The factors that influence disease severity and the rate of progression are still unknown.

Common features include dystonia, (an abnormality in muscle tone), muscular rigidity, and sudden involuntary muscle spasms (spasticity). These features can result in clumsiness, gait (walking) problems, difficulty controlling movement, and speech problems. Another common feature is degeneration of the retina, resulting in progressive night blindness and loss of peripheral (side) vision. In general, symptoms are progressive and become worse over time.

This disorder was formerly known as Hallervorden-Spatz Syndrome, but because of concerns about the unethical activities of Dr. Hallervorden (and perhaps also Dr. Spatz) involving euthanasia of mentally ill patients during World War II, the name has been changed. Neurodegeneration with Brain Iron Accumulation Type 1 reflects the continuing discoveries about the underlying cause of the disorder. This name is increasingly used in the scientific literature. The term NBIA1 is general enough to cover all conditions previously categorized as Hallervorden-Spatz syndrome. The largest subgroup of NBIA observed so far is PKAN (pantothenate kinase associated neurodegeneration). It is a defect of the gene PANK2, which causes a deficiency of the enzyme pantothenate kinase. As the terminology changes, one may notice the terms NBIA and PKAN being used interchangeably with HSS.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 2430
Chicago, IL 60601-1905
United States
Tel: 3127550198
Fax: 3128030138
Tel: 8003773978
Email: dystonia@dystonia-foundation.org
Internet: http://www.dystonia-foundation.org

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Dystonia Clinical Research Center
Columbia Presbyterian Hospital
710 West 168th Street
New York, NY 10032

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 2/7/2003
Copyright 1986, 1990, 1995, 1996, 1998, 2001, 2002, 2003 National Organization for Rare Disorders, Inc.

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