Neurodegeneration with Brain Iron Accumulation Type 1

National Organization for Rare Disorders, Inc.

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.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 2810
Chicago, IL 60601-1905
United States
Tel: (312)755-0198
Fax: (312)803-0138
Tel: (800)377-3978
Email: dystonia@dystonia-foundation.org
Internet: http://www.dystonia-foundation.org

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)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Advocacy for Neuroacanthocytosis Patients
32 Launceston Place
London, W8 5RN
UK
Tel: +44 (0) 20 7937 2938
Fax: +44 (0)207 495 4245
Email: glenn@naadvocacy.org
Internet: http://www.naadvocacy.org Spanish-speakers Fiona Fleming fionmend@hotmail.com, French-speakers Anne Depaulis depaulisanne@hotmail.com & German-speakers Louise Dreher Hedreher@aol.com

For a Complete Report

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

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