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Neurodegeneration with Brain Iron Accumulation Type 1
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Copyright 1986, 1990, 1995, 1996, 1998, 2001, 2002, 2003
Synonyms of Neurodegeneration with Brain Iron Accumulation Type 1
- Hallervorden-Spatz Syndrome
- HSS
- NBIA1
- NBIA1
- Pantothenate Kinase Associated Neurodegeneration (PKAN)
- Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus
Disorder Subdivisions
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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Organizations related to Neurodegeneration with Brain Iron Accumulation Type 1
- Advocacy for Neuroacanthocytosis Patients
32 Launceston Place
London None W8 5RN
Phone #: +44- (0-) 20 7937 2938
800 #: N/A
e-mail: glenn@naadvocacy.org
Home page: http://www.naadvocacy.org
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Dystonia Clinical Research Center
Columbia Presbyterian Hospital
710 West 168th Street
New York NY 10032
Phone #: --
800 #: --
e-mail: N/A
Home page: N/A
- Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 2810
Chicago IL 60601-1905
Phone #: 312-755-0198
800 #: 800-377-3978
e-mail: dystonia@dystonia-foundation.org
Home page: http://www.dystonia-foundation.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NBIA Disorders Association
2082 Monaco Court
El Cajon CA 92019-4235
Phone #: 619-588-2315
800 #: --
e-mail: info@nbiadisorders.org
Home page: http://www.NBIAdisorders.org
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
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