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         Hallervorden-spatz Syndrome:     more detail

81. Radiological Quiz - Neuroradiology
Hallervorden Spatz syndrome. 3. Sethi KD, Adams RJ, Loring DW, EI Gammal T. HallervordenSpatzsyndrome clinical and magnetic resonance imaging correlations.
http://www.ijri.org/archives/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.

82. Health Library - Hallerevorden-Spatz Syndrome
HallerevordenSpatz syndrome. Self Help Clearinghouse. Hallervorden-Spatzsyndrome Association. International network. Founded 1996
http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29h

83. Health Library - Hallerevorden-Spatz Syndrome
HallerevordenSpatz syndrome. Self Help Clearinghouse. Hallervorden-Spatzsyndrome Association. International network. Founded 1996
http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29hal

84. JPMA - Abstract
The definitive diagnosis of Hallervorden Spatz disease could only be made on histopathologicalgrounds hence the term Hallervorden Spatz syndrome has been used
http://jpma.org.pk/new/main/abstract.asp?article_NO=V52N11P9

85. Hallervorden-Spatz Disease
The Official Patient's Sourcebook on hallervordenspatz DISEASE (hallervorden-spatzSyndrome; late infantile neuroaxonal dystrophy; Neuroaxonal Dystrophy, Late
http://www.icongrouponline.com/health/Hallervorden-spatz_Disease.html
ICON Health Publications
Official Health Sourcebooks The Official Patient's Sourcebook
on
HALLERVORDEN-SPATZ DISEASE

(Hallervorden-Spatz Syndrome; late infantile neuroaxonal dystrophy; Neuroaxonal Dystrophy, Late Infantile; Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus; pigmentary pallidal degeneration syndrome; Progressive Pallid Degeneration Syndrome; progressive pallidal degeneration syndrome) Revised and Updated for the Internet Age Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Electronic File * E-Book version sent via e-mail in 2 business days Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Hallervorden-Spatz Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Hallervorden-Spatz Syndrome; late infantile neuroaxonal dystrophy; Neuroaxonal Dystrophy, Late Infantile; Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus; pigmentary pallidal degeneration syndrome; Progressive Pallid Degeneration Syndrome; progressive pallidal degeneration syndrome Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Hallervorden-Spatz Disease: Guidelines

86. Health Library - Hallerevorden-Spatz Syndrome
SEARCH. HallerevordenSpatz syndrome. Self Help Clearinghouse. Hallervorden-Spatzsyndrome Association. International network. Founded
http://www.muskogeehealth.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29h

87. Service Page - Pathologie Information
DISEASE hallervordenspatz disease, Synonym(s) Neuroaxonal dystrophy, lateinfantile Pantothenate kinase-associated neurodegeneration, CIM G23.0,
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=385

88. EP Magazine Issues
Kimbi A mother's quest to help her daughter with Hallervorden Spatz syndrome ledher to found an organization that promotes research into this rare disorder.
http://www.eparent.com/magazine/aug01_magazine.htm
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August 2001 Who CARES? Special Section on the Direct Support Profession EP takes an in-depth look at issues faced by DSPs—the critical link in care for people with special needs. 12 The Crisis in the Direct Support Professional Workforce
Finding, Keeping, and Training DSPs
by Amy Hewitt, PhD
  • ANCOR—The American Network of Community Options and Resources Some Solutions to the DSP Dilemma The Plight of Direct Support Professionals
WORKFORCE ISSUES 26 It's 1 am, Do You Know Where the Third Shift Is? by Ruth Toon 28 You Get What You Pay For—The Underfunded Mandate for DSPs by John Rose
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33 Breaking the Myth of Sisyphus by Susan O'Nell A parent's guide to understanding the DSP crisis. 38 Thoughts on Being a Professional Caregiver by Patti Wade 40 Are You Gonna Be Here Tomorrow? by David C. Pfriem

89. Katalog - Wirtualna Polska
Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce.
http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Neurological_Disorders/
Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Brain Diseases > Basal Ganglia Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane
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90. NEJM -- Genetic, Clinical, And Radiographic Delineation Of Hallervorden-Spatz Sy
Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz SyndromeSusan J. Hayflick, MD, Shawn K. Westaway, Ph.D., Barbara Levinson, MA, Bing
http://content.nejm.org/cgi/content/abstract/348/1/33
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 348:33-40 January 2, 2003 Number 1 Next
Susan J. Hayflick, M.D., Shawn K. Westaway, Ph.D., Barbara Levinson, M.A., Bing Zhou, Ph.D., Monique A. Johnson, Ph.D., Katherine H.L. Ching, B.S., and Jane Gitschier, Ph.D. Table of Contents Full Text of this article PDF of this article PDA version of this article ... Alert me when this article is cited ISI Web of Science Related Articles Related Articles in Medline Articles in Medline by Author: Hayflick, S. J. Gitschier, J. Medline Citation Genetics ...
Related Chapters at Harrison's Online

ABSTRACT Background recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase neurodegeneration. In this study, we compared the clinical and syndrome with and without mutations in Methods One hundred twenty-three patients from 98 families with on the basis of clinical assessment as having classic disease (characterized by early onset with rapid progression) or atypical disease (later onset with slow progression). Their genomic DNA

91. Department Of Human Genetics - Clinical Laboratory And Patient Services
Clinical Laboratory Services. PANK2 Sequencing for HallervordenSpatzSyndrome/PKAN Testing. PANK2 sequence analysis is indicated
http://www.genes.uchicago.edu/clinic/PANK2Test.html
Clinical Laboratory Services
Sequencing for Hallervorden-Spatz Syndrome/PKAN Testing
sequence analysis is indicated for individuals with a clinical diagnosis of Hallervorden-Spatz syndrome/pantothenate kinase associated neurodegeneration (PKAN). Mutations in the gene have recently been identified in patients with PKAN . Preliminary findings suggest that about 70% of patients with a clinical diagnosis of PKAN have mutations in the gene while greater than 90% of patients with classical MRI findings have mutations in the gene (Dr. Hayflick, personal communication). Sample specifications: 5 cc of blood in a lavender top/EDTA tube
Turn-around-time: 4 - 6 weeks
Cost: $1325
CPT codes: 83891, 83898 x4, 83904 x5, 83912 * Once a mutation is identified, other family members can be tested for the same mutation for a fee of $390 per blood sample (CPT codes: 83891, 83898 x2, 83894, 83912). Please contact UCGS personnel if you wish to discuss the specifics of your case, or if you have any questions. Zhou et al., A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 2001. Nature Genetics, 28(4):345-349

92. AD HOC BIBLIO - INDEX SUJETS LETTRE H Compilé Le 14/01/03
Habiletés conversationnelles; Habiletés de vie autonome; HallervordenSpatzSyndrome; Hémiplégie cérébrale infantile; Hydrothérapie. - FIN -.
http://www.cidg.com/~marienf/k/i/mid1h.htm
H
  • - FIN -
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  • Apprentissages moteurs et conditions d'apprentissages.... [m]
  • Approaching literacy with AAC graphics.... [a]
  • Attention-Deficit/Hyperactivity Disorder : Perspectives from neuroimaging.... [a]
  • Category and modality deficits of semantic memory in patients with left hemisphe...
  • 93. A Novel Pantothenate Kinase Gene (PANK2) Is Defective In Hallervorden-Spatz Synd
    4 pp 345 349 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatzsyndrome Bing Zhou 1 , Shawn K. Westaway 2 , Barbara Levinson 1
    http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v28/n4/abs/D-ng572.h

    94. HUM-MOLGEN Archive: DIAG: Chondrodysplasias/Spatz Syndr.
    This DIAG message contains 2 submessage(s) 1) chondrodysplasias 2) HallervordenSpatzsyndrome Carlo Gambacorti MD, Editor, Human Molecular Genetics network
    http://www.hum-molgen.de/mail-archive/1995-Dec/msg00011.html
    home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti: DIAG: chondrodysplasias/Spatz syndr. archive of HUM-MOLGEN mails
    Author Prev
    Author Next Thread Prev ...
    HUM-MOLGEN@NIC.SURFNET.NL

    Subject : DIAG: chondrodysplasias/Spatz syndr.
    From GAMBACORTI@icil64.cilea.it
    Date : Fri, 15 Dec 1995 15:50:25 MET-DST

    95. National Organization For Rare Disorders (NORD)
    Neurodegeneration with Brian Iron Accumulation (NBIA) (HallervordenSpatzSyndrome) - RFP. NORD is accepting applications for one
    http://www.library.utoronto.ca/medicine/research/fmro/fund-opps/March10/nord.htm

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    http://www.tsinghua.edu.cn/docsn/swx/faculty/zhoubing.htm
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  • Wang, K, Zhou, B. Yien, M. Kuo, Zemansky, J. and Gitschier, J (2002). Anovel member of a Zinc transporter family is defective in AcrodermatitisEnteropathica. American Journal of Human Genetics Hayflick, S., Levinson, B, Westaway S
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