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
Extractions: 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). 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:
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
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
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
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
Extractions: (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
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
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
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
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/
Extractions: 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 ... 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
Extractions: 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 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
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
Extractions: - FIN - [a] Teachers ratings of the social competence and school adjustment of students with... [a] Using behavioral indication and functional communication training to establish a... [a] Spatial cognition in children. I. Development of drawing-related (visuospatial a... [a] Spatial cognition in children. II. Visuospatial and constructional skills in de... [a] The effects of stimulant medications on the art products of ADHD children.... [a] [a] Bimanual skill development in pediatric below-elbow amputation : a multi-center,... [a] A comparison of limb praxis abilities of persons with developmental dyspraxia an... [a] A longitudinal study of cognitive abilities and educational attainment in Willia... [a] Abilities and attainment in Smith-Magenis syndrome.... [a] Abstract thinking following severe traumatic brain injury.... [a] 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...
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
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
Ç廪´óѧÉúÎïϵ¡ª¡ªÖܱø½ÌÊÚ The summary for this Chinese (Simplified) page contains characters that cannot be correctly displayed in this language/character set. http://www.tsinghua.edu.cn/docsn/swx/faculty/zhoubing.htm
