Extractions: ADENOID CYSTIC CARCINOMA, MASTOCYTOSIS, HALLERVORDEN-SPATZ SYNDROME - NORD The National Organization for Rare Disorders is seeking applications for 1-year grants for clinical studies related to the early detection, diagnosis, or treatment of patients with 1) adenoid cystic carcinoma; 2) Hallervorden-Spatz syndrome; and 3) mastocytosis. Grants provide up to $30,000 for 1 year. Contact: NORD, Research Grant Program, 100 Rt. 37, P.O. Box 8923, New Fairfield, CT 06812-8923. Web: http://www.rarediseases.org/ E-mail: lcataldo@rarediseases.org Telephone: (800) 999-6673. Fax: (203) 746-6481. Deadline: 15 May 2002 for letters of intent; 1 August 2002 for invited full proposals. RSO Reference No.:
Hallervorden-Spatz Syndrome Association Return to Search Page hallervordenspatz syndrome Association. 2082 Monaco Ct ElCajon, CA 92019 Conditions hallervorden-spatz syndrome. Answering Machine yes http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Hall
AD HOC BIBLIO - INDEX SUJETS LETTRE H Compilé Le 14/01/03 INDEXSUJETS , Lettre H hallervorden-spatz syndrome In vivo diagnosis of Hallervorden-SpatzDisease .a; Iron in the hallervorden-spatz syndrome .a; http://www.cidg.com/~marienf/k/i/mid3h.htm
Patient 41 Selftest Patient 41 hallervordenspatz syndrome A. In hallervorden-spatz syndrome, lenticulardegeneration results from excessive systemic iron accumulation. http://www.bcm.tmc.edu/neurol/challeng/pat41/selftest.html
Extractions: 2. Which of the following statements is MOST correct? A. In Hallervorden-Spatz syndrome, lenticular degeneration results from excessive systemic iron accumulation. B. Iron chelating agents may produce significant clinical improvements in patients with the Hallervorden-Spatz syndrome. C. The excessive iron accumulation observed in patients with Hallervorden-Spatz syndrome may be secondary to injury of the striatum or other basal ganglia by the disease process. D. MRI evidence of excessive iron accumulation in the globus pallidus or putamen is rarely observed in patients with diagnoses other than Hallervorden-Spatz syndrome.
Patient 41 Test Answer 5e Patient 41 Question 5 hallervordenspatz syndrome Early in the course ofthe disease, the MRI in hallervorden-spatz syndrome may be normal. http://www.bcm.tmc.edu/neurol/challeng/pat41/answer5e.html
Extractions: A well-documented maternal inheritance pattern would be highly suggestive of a mitochondrial disorder, whereas the Hallervorden-Spatz syndrome is inherited in an autosomal recessive fashion. Early in the course of the disease, the MRI in Hallervorden-Spatz syndrome may be normal. The Hallervorden-Spatz syndrome has been described in families from diverse ethnic backgrounds. The appearance of cognitive dysfunction, while frequent, may lag behind the appearance of motor symptoms by many years. Corticospinal signs are often evident in patients with the Hallervorden-Spatz syndrome, although spasticity is usually not the dominant manifestation of the disorder. Department of Neurology, Baylor College of Medicine
ASHG 1997 - Hallervorden-Spatz Disease Heterogeneity Abstract Evidence for locus heterogeneity in hallervordenspatz syndrome. Three familieswith hallervorden-spatz syndrome are not linked to this region. http://www.geocities.com/taylor_todd_d/papers/ashg97hs.htm
Extractions: Home Up Evidence for locus heterogeneity in Hallervorden-Spatz syndrome T. D. Taylor , H. Hattori , S. Bundey , A.Malandrini , M. Villanova , G. M. Fabrizi , A. Malone , M.Litt and S. J. Hayflick Oregon Health Sciences University, Portland, USA, Kyoto University School of Medicine, Japan, University of Birmingham, UK, Institute of Neurological Sciences, University of Siena, Italy Am J Hum Genet 1997; 61:A403, 2357 Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder of childhood. Its features include extrapyramidal dysfunction, onset during the first two decades of life, and progression of signs and symptoms. HSS is characterized pathologically by massive iron deposits in the basal ganglia, specifically the globus pallidus and substantia nigra pars reticulata. We have mapped a gene for Hallervorden-Spatz syndrome to chromosome 20p12.3-p13 in 20 unrelated and ethnically diverse families, indicating a single major locus (designated NBIA1, neurodegeneration with brain iron accumulation, type 1) for this disease.
Todd Taylor's Publications Homozygosity mapping of hallervordenspatz syndrome to chromosome 20p12.3-p13. Homozygositymapping of hallervorden-spatz syndrome to chromosome 20p12.3-p13. http://www.geocities.com/taylor_todd_d/main/pubs.htm
Extractions: PUBLICATIONS Choi DK, Suzuki Y, Yoshimura S, Togashi T, Hida M, Taylor TD , Wang Y, Sugano S, Hattori M, and Sakaki Y. Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5) . Mammalian Genome 2001, 12:347-351. [ abstract full text Levanon D, Glusman G, Bangsow T, Ben-Asher E, Male DA, Avidan N, Bangsow C, Hattori M, Taylor TD , Taudien S, Blechschmidt K, Shimizu N, Rosenthal A, Sakaki Y, Lancet D, and Groner Y. Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1 . Gene 2001, 262:23-33. [ abstract full text The Genome International Sequencing Consortium. Initial sequencing and analysis of the human genome . Nature 2001, 409:860-921. [ abstract full text On February 15, 2001, the International Human Genome Sequencing Consortium published a report in Nature on the completion and initial analyses of the 'working draft' sequence of the human genome. Involving thousands of scientists from all over the world and spanning twenty years since the idea was conceived, we have now achieved over 90% coverage of our 3.2 gigabase genome. Sakaki Y, Hattori M, Toyoda A, Watanabe H, Yada T
A Novel Pantothenate Kinase Gene (PANK2) Is Defective In Comment in Nat Genet. 2001 Aug;28(4)299300. Click here to read A novel pantothenatekinase gene (PANK2) is defective in hallervorden-spatz syndrome. http://www.ncbi.nlm.nih.gov/entrez/utils/qmap.cgi?uid=21372465&form=6&db=m&Dopt=
Health Library - Hallerevorden-Spatz Syndrome Saint Luke's Health System eLibrary. HallerevordenSpatz Syndrome. Self HelpClearinghouse. hallervorden-spatz syndrome Association. International network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29
Health Library - Hallervorden Spatz Disease Synonyms. hallervordenspatz syndrome; Neuroaxonal Dystrophy, Late Infantile;HSS; Neurodegeneration with Brain Iron Accumulation Type 1 (NBIA1); http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h
Orthoguide.com Hallervorden-Spatz Syndrome Search results for hallervordenspatz syndrome . NO MATCHES FOUND-Pleaseselect a different keyword or category OR Search AltaVista http://www.orthoguide.com/ortho/Hallervorden-Spatz_Syndrome.php3
Extractions: FINAL DIAGNOSIS: NEURODEGENERATION WITH AXONAL SPHEROIDS AND IRON DEPOSITION (NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; HALLERVORDEN-SPATZ DISEASE). DISCUSSION Hallervorden-Spatz disease (HSD) is a progressive neurodegenerative disease first described in two sisters in 1922 (1). The onset of symptoms is during the first two decades of life and mean survival is approximately 11 years; The clinical features may include progressive motor disorder characterized mainly by "extrapyramidal" signs, typically dystonia, choreoathetosis, tremor, dysarthria, muscular rigidity, and mental deterioration evolving to dementia. Other clinical features may include seizures, corticospinal tract involvement with spasticity and retinitis pigmentosa (2). Approximately one half of HSD cases are familial with an autosomal recessive pattern of inheritance. Recently a locus harboring the putative HSD gene was identified, by homozygocity mapping, on chromosome 20p12.3-p13. (3). Adult-onset HSD cases have been described and in rare cases acanthocytosis is also present. HSD-like cases with acanthocytosis, retinitis pigmentosa and pallidal degeneration with or without hypoprebetalipoproteinemia, have also been described (4, 5). Clinical criteria have been proposed to aid in the diagnosis of HSD but it is often difficult to arrive at the correct diagnosis without postmortem brain examination (6, 7). There is, currently, no treatment for HSD and management is directed at controlling specific symptoms.
Nature Genetics volume 14 number 4 page 479 Homozygosity mapping of hallervordenspatz syndrome tochromosome 20p12.3p13 Todd D. Taylor 1 , Michael Litt 1 , Patricia Kramer http://www.nature.com/ng/wilma/v14n4.868546723.html
Extractions: Hallervorden-Spatz syndrome (HSS) (OMIM #234200) is a rare, autosomal recessive neurodegenerative disorder with brain iron accumulation as a prominent finding. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course . Histologic study reveals massive iron deposits in the basal ganglia. Systemic and cerebrospinal fluid iron levels are normal, as are plasma levels of ferritin, transferrin and ceruloplasmin. Conversely, in disorders of systemic iron overload, such as haemochromatosis, brain iron is not increased, which suggests that fundamental differences exist between brain and systemic iron metabolism and transport. In normal brain, non-haem iron accumulates regionally and is highest in basal ganglia . Pathologic brain iron accumulation is seen in common disorders, including Parkinson's disease
NORD - National Organization For Rare Disorders, Inc. Disorder Subdivisions General Discussion hallervordenspatz syndrome (HSS)is a rare, inherited, neurological movement disorder characterized by the http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Hallervorden
Hallervorden-spatz, Maladie : Sites Et Documents Francophones Translate this page Menu général CISMeF. Arborescence(s) du thesaurus MeSH contenant lemot-clé Hallervorden-Spatz, maladie hallervorden-spatz syndrome http://www.chu-rouen.fr/ssf/pathol/hallervordenspatzmaladie.html
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Extractions: document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Last Updated: June 7, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: HSD, neurodegeneration with brain iron accumulation type1, NBIA-1, late infantile neuroaxonal dystrophy AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Neeta Garg, MD , Staff Physician, Department of Neuroscience, JFK Medical Center, Seton Hall University Coauthor(s): Philip A Hanna, MD , Director, Parkinson's Disease and Movement Disorders Center; Assistant Professor, New Jersey Neuroscience Institute, JFK Medical Center, Edison, NJ Neeta Garg, MD, is a member of the following medical societies: American Academy of Neurology Editor(s): Christopher C Luzzio, MD , Clinical Assistant Professor, Department of Neurology, University of Wisconsin at Madison; Francisco Talavera, PharmD, PhD
La Maladie De Hallervorden-Spatz Translate this page Synonymes hallervorden-spatz syndrome de (HSS) Dystrophie neuro-axonale tardiveNeurodegeneration with Brain Iron Accumulation 1 (NBIA 1) Pantothenate Kinase http://orphanet.infobiogen.fr/data/patho/FR/fr-HSS.html
