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         Hallervorden-spatz Syndrome:     more detail

1. NBIA Disorders Association
Contains news, research information, family pages with personal stories, publications and resources, details of fundraising efforts and association history.
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2. HONselect - Hallervorden-Spatz Syndrome
Language MeSH term Accepted terms English hallervordenspatz syndrome - Pigmentary Pallidal Degeneration - Hallervorden-Spatz Disease - Pigmentary Pallidal Atrophy - Atrophies, Pigmentary Pallidal - Atrophy, Pigmentary Pallidal -
http://www.hon.ch/HONselect/RareDiseases/C10.228.140.079.493.html
List of rare diseases: English Deutsch
Language:
MeSH term:
Accepted terms:
English: Hallervorden-Spatz Syndrome - Pigmentary Pallidal Degeneration
- Hallervorden-Spatz Disease
- Pigmentary Pallidal Atrophy
- Atrophies, Pigmentary Pallidal
- Atrophy, Pigmentary Pallidal
- Degeneration, Pigmentary Pallidal
Français: HALLERVORDEN-SPATZ, MALADIE Deutsch: Hallervorden-Spatz-Syndrom - Pallidoretikuläre Pigmentdegeneration - Globus-pallidus-Pigmentdegeneration Español: SINDROME DE HALLERVORDEN-SPATZ - DEGENERACION PALIDAL PIGMENTARIA Português: SINDROME DE HALLERVORDEN-SPATZ - DEGENERACAO PALIDAL PIGMENTAR HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C10.228.140.079.493.html Last modified: Wed Apr 28 2004

3. HALLERVORDEN-SPATZ SYNDROME
Features Listed For hallervordenspatz syndrome. McKusick 234200. Cerebral atrophy/myelin abnormality. Extra-pyramidal disorder. Nystagmus. Optic atrophy. Pons/medulla/basal ganglia, abnormal. Retinitis pigmentosa. Chromosome(s) -
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?730

4. Hallervorden-Spatz Syndrome (www.whonamedit.com)
If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here see a doctor. hallervordenspatz syndrome
http://www.whonamedit.com/synd.cfm/1082.html

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Hallervorden-Spatz syndrome Also known as:
Hallervorden-Spatz disease
Gilman and Barrett neuroaxonal dystrophy type I Synonyms: Localized neuroaxonal dystrophy, late infantile neuroaxonal dystrophy, progressive pallidal degeneration syndrome, progressive pallidal degeneration or adult amaurotic idiocy, pigmentary degeneration syndrome of globus pallidus, substantia nigra and red nucleus, pallidoreticular pigment degeneration, progressive pallidal degeneration syndrome. Associated persons: Robert E. Barrett Sid Gilman Julius Hallervorden Hugo Spatz Description: A very rare disease beginning in childhood, with degeneration of the globus pallidus, red nucleus, and reticular part of the substantia nigra of the brain. It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation. Onset is in late childhood; death usually occurs within 10 years, but courses of up to 30 years have been described. Aetiology unknown; considered one form of iron storage disease. A heredo-familial syndrome, inherited as an autosomal recessive trait; some unrelated cases reported

5. Radiological Quiz - Neuroradiology
EC, Schoene WC, Richardson EP Jr. Hallervorden Spatz syndrome. Arch Neurol 1974; 30 7083 DW, EI Gammal T. hallervorden-spatz syndrome clinical and magnetic resonance imaging
http://www.ijri.org/20011104/radquiz03.htm
Radiological Quiz – Neuroradiology
BK Parameswaran, AK Gupta, S Joseph, TR Kapilamoorthy, B Thomas
Ind J Radiol Imag 2001 11:4:213-214
A nineteen-year-old boy presented with dystonia, slowly progressing since the age of 5 years. On examination, the patient was depressed and had dystonia and tremors. He had no cranial nerve palsies and his fundi were normal. Hematological examination was normal with no acanthocytosis. MRI was performed (Figs 1, 2).
Fig. 1 Fig. 2
Radiological Diagnosis
Hallervorden - Spatz Disease
The axial T2 and coronal PD images through basal ganglia show marked hypo intensity of globus pallidus with hyperintense area within. This appearance is referred to as “eye of tiger sign” and is diagnostic of Hallervorden Spatz Disease (HSD). HSD is a rare neurological disorder, characterized by dystonia, rigidity, retinal degeneration, pyramidal signs and mental deterioration. Criteria for diagnosis of HSD are:
1. Onset at young age with slow progression of the illness over an average age of 15 years.

6. First Scientific Workshop On Hallervorden-Spatz Syndrome
copy. First Scientific Workshop on hallervordenspatz syndrome National Institutes of Health, Bethesda, Maryland May 19 20, 2000.
http://www.hssa.org/workshop.htm
Pediatric Neurology devoted its August, 2001, issue Vol. 25, pages 89-176 to the First Scientific Workshop on Hallervorden-Spatz Syndrome. We have a limited number of copies available. This is a professional publication geared for physicians and health professionals. Please contact pwood@NBIAdisorders.org if you are interested in receiving a copy.
First Scientific Workshop on Hallervorden-Spatz Syndrome
National Institutes of Health, Bethesda, Maryland
Researchers from 7 countries gathered together at NIH for the first time to discuss HSS.
Scientists map out research strategy to tackle HSS By Dr. Susan J. Hayflick An historic event took place at the National Institutes of Health May 19 and 20. Nearly 50 scientists, physicians and others interested in HSS from around the world gathered for the First Scientific Workshop on Hallervorden-Spatz Syndrome, sponsored by the Office of Rare Disorders and the National Institute of Neurological Disorders and Stroke. This marked the first time researchers met to discuss what is known about HSS and what is needed to further HSS studies. Since few scientists study HSS, the meeting also had the goal of stimulating interest in the disorder among young researchers whose work relates to some aspect of the disease. After defining what we know about HSS - including its clinical, pathological and genetic features - we discussed iron metabolism and how the basal ganglia in the brain work. The group learned about other disorders of brain iron accumulation in humans and mice and discussed possible therapies for HSS, including chelation, nitric oxide and medications to limit the body’s production of damaging compounds (free radicals) as a result of the iron.

7. Redirect
A clinical synopsis of hallervordenspatz syndrome.
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?234200

8. Hallervorden-Spatz Syndrome - Information / Diagnosis / Treatment / Prevention
home neurological disorders brain diseases basal ganglia hallervordenspatz syndrome hallervorden-spatz syndrome. Information
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Related Topics: Genetic Disorders Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "Hallervorden-Spatz syndrome" Health News: Search millions of published articles for news on Hallervorden-Spatz Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Hallervorden-Spatz Disease Information sheet compiled by NINDS. Hallervorden-Spatz Syndrome Association (HSSA) Contains news, research information, family pages with personal stories, publications and resources, details of fund-raising efforts and association history. MCW HealthLink An article about Hallervorden-Spatz disease, with an explanation, the symptoms and prognosis.

9. NORD - National Organization For Rare Disorders, Inc.
Offers synonyms, a general discussion and further resources for the disorder formerly known as hallervordenspatz syndrome.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Neurodegenera

10. NeuroGate.com
Search results for "hallervordenspatz syndrome" Cardioguide Matches 1 - 1 of 1 Search AltaVista for more on 'hallervorden-spatz syndrome'
http://www.neurogate.com/neuro/result.php3?search=Hallervorden-Spatz Syndrome&am

11. HON - List Of Rare Diseases
GuillainBarre Syndrome, Gynatresia. Hallermann s Syndrome, hallervorden-spatz syndrome. Hamartoma Syndrome, Multiple, Hand-Schueller-Christian Syndrome.
http://www.hon.ch/HONselect/RareDiseases/
List of rare diseases: English Deutsch Acrocephalosyndactylia
Acrodermatitis
... HONewsletter http://www.hon.ch/HONselect/RareDiseases/index.html Last modified: Wed Apr 28 2004

12. Search: - Info.co.uk
Results for hallervordenspatz syndrome from Info.co.uk metasearch. Find better search results from the Web, Yellow Pages and White Pages quickly and easily! STREIFF - OCULO-MANDIBULO-DYSCEPHALY;
http://dpxml.infospace.com/infocom.uk/results?otmpl=dog/webresults.htm&qkw=H

13. The First Scientific Workshop Of Hallervorden-Spatz Syndrome
The First Scientific Workshop of hallervordenspatz syndrome Debbie Forstall Secretary, hallervorden-spatz syndrome Association.
http://www.ninds.nih.gov/news_and_events/proceedings/Hallervorden-Spatz.htm
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The First Scientific Workshop of Hallervorden-Spatz Syndrome
Grant Number: NS40452-01 May 19 - 20, 2000 Principal Investigator: Susan J. Hayflick, MD Organization Conducting Meeting: Hallervorden-Spatz Syndrome Association and Oregon Health Sciences University Friday, May 19, 2000 7:00 - 8:00AM Registration 8:00 - 8:15AM Opening Remarks Section I - Chaired by Swaiman 8:15 - 9:45AM Session I - Clinical Delineation of HSS
  • Data from International Patient Registry - Hayflick (30)
9:45 - 10:00AM Roundtable discussion 10:00 - 10:15AM Break 10:15 - 11:00AM Session II - Pathology of HSS 11:00 - 11:15AM Roundtable discussion 11:15 - 11:45PM Session III - Genetics of HSS
  • Mapping the gene(s) for HSS - Hayflick (15) Candidate disease genes - Zhou (15)
11:45 - 12:00PM Roundtable discussion 12:00 - 1:00PM Lunch Section II - Chaired by Rouault 1:00 - 1:45PM Session IV - Systemic Iron Transport and Metabolism

14. Hallervorden-Spatz Syndrome Gene Discovery
Laboratories. Education. Jobs. About NEI. Resources. Help Viewing Site. Home News and Events Statements and Reports on Vision hallervordenspatz syndrome Gene Discovery. NEI Statement. hallervorden-spatz syndrome Gene Discovery The gene that causes hallervorden-spatz syndrome has been identified by National Eye Institute (NEI) grantees. hallervorden-spatz syndrome is a rare, inherited, neurological
http://www.nationaleyeinstitute.net/news/statements/hallervorden-spatz.htm
Health Funding News Laboratories ... Statements and Reports on Vision
NEI Statement
Hallervorden-Spatz Syndrome Gene Discovery
National Eye Institute
National Institutes of Health The gene that causes Hallervorden-Spatz syndrome has been identified by National Eye Institute (NEI) grantees. Hallervorden-Spatz syndrome is a rare, inherited, neurological disorder associated with high accumulations of iron in the brain, and causes progressive degeneration of the retina and nervous system. The new findings appear in the August 2001 issue of Nature Genetics. Susan J. Hayflick, MD, associate professor of Molecular and Medical Genetics at Oregon Health Sciences University in Portland, and colleagues discovered that the defective gene produces an ineffective enzyme. The body needs the normal enzyme to utilize vitamin B5; without it, vitamin B5 cannot produce some of the body's essential compounds. The ineffective enzyme results in Hallervorden-Spatz syndrome. Because of this research, scientists can now focus their efforts on developing treatment strategies that bypass this defective enzyme, allowing the body to utilize vitamin B5 to help make the essential body compounds. Researchers can also look toward developing a genetic diagnostic test for the syndrome. Understanding the biochemical defects in Hallervorden-Spatz syndrome may also provide insights into the effect iron has on other neurodegenerative diseases associated with high iron accumulations, such as Parkinson's disease.

15. Hallervorden-Spatz Syndrome From Linkspider UK Health Directory
Directory Topic hallervordenspatz syndrome assoicated to Health. Information. - A clinical synopsis of hallervorden-spatz syndrome.
http://linkspider.co.uk/Health/ConditionsandDiseases/NeurologicalDisorders/Brain
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16. The First Scientific Workshop Of Hallervorden-Spatz Syndrome
The First Scientific Workshop of hallervordenspatz syndrome. Get Web page suited for Registry of Patients with hallervorden-spatz syndrome and Related Disorders indicate that
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    The First Scientific Workshop of Hallervorden-Spatz Syndrome
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    The First Scientific Workshop of Hallervorden-Spatz Syndrome
    Grant Number: NS40452-01
    May 19 - 20, 2000
    Principal Investigator: Susan J. Hayflick, MD
    Organization Conducting Meeting: Hallervorden-Spatz Syndrome Association and Oregon Health Sciences University Friday, May 19, 2000

    17. Neurological Disorders, Brain Diseases, Basal Ganglia, Hallervoden-Spatz Syndrom
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    18. Neurological Disorders, Brain Diseases, Basal Ganglia, Hallervoden-Spatz Syndrom
    Category Home Health Conditions and Diseases Neurological Disorders Brain Diseases Basal Ganglia hallervordenspatz syndrome.
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    19. Hallervorden-Spatz Syndrome
    Directory, Home Health Conditions and Diseases Neurological Disorders Brain Diseases Basal Ganglia hallervordenspatz syndrome (5) See Also
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    20. Huntington's Disease
    3) Gaucher s@ (14) Glutaricaciduria (4) Glycogen Storage Disease Type II@ (4) HaileyHailey Disease (2) hallervorden-spatz syndrome@ (5) Hemihypertrophy (3
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