21. Adenoid Cystic Carcinoma, Mastocytosis, Hallervorden-Spatz Syndrome ADENOID CYSTIC CARCINOMA, MASTOCYTOSIS, hallervordenspatz syndrome- NORD. The National Organization for Rare Disorders is seeking http://vpr2.admin.arizona.edu/rso/02041210.htm

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.:

22. 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

23. 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

H Hallervorden-Spatz Syndrome... Cranial MRI changes may precede symptoms in Hallervorden-Spatz Syndrome.... [a] First scientific workshop on Hallerdorden-Spatz syndrome: executive summary.... [a] Four siblings with Hallervorden-Spatz disease.... [a] Genetic, clinical, and radiographic delineation of Hallervorden-Spatz Syndrome... [a] Hallervorden-Spatz disease : two new early childhood onset cases.... [a] Hallervorden-Spatz Syndrome.... [a] In vivo diagnosis of Hallervorden-Spatz Disease.... [a] Iron in the Hallervorden-Spatz Syndrome.... [a] Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz Syndrome)... [a] Rehabilitation of patients with Hallervorden-Spatz Syndrome.... [a] Hallucinations... An overview of theory and research of hallucinations: implications for occupatio... [a] On electromyographic (EMG) gradients and movement-related brain activity : signi... [a] Hallucinations organiques... Spontaneous Cognitive recovery despite long-term organic hallucinosis following ... [a] Hallux-valgus... Surgical management of hallux vagus deformity in children with cerebral palsy...

24. 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

Patient #41 Hallervorden-Spatz syndrome 1. Hallervorden-Spatz syndrome and Wilson's disease may be reliably distinguished on the basis of WHICH of the following clinical features: A. Bulbar onset and predominance of extrapyramidal features B. Predominance of dystonia in Hallervorden-Spatz syndrome C. Predominance of ataxia in Hallervorden-Spatz syndrome D. Autosomal recessive inheritance pattern E. None of the above 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. 3. Which of the following clinical features in a child would be MOST suggestive of a diagnosis of Hallervorden-Spatz syndrome?

25. 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

Patient #41 Question 5 Hallervorden-Spatz syndrome You answered (E). The correct answer is (A). 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

26. 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

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.

27. 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

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

28. 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=

29. Health Library HallerevordenSpatz Syndrome. hallervorden-spatz syndrome Association-Hallerevorden-SpatzSyndrome. Hazardous Waste. HCV Anonymous-Hepatitis. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/_SearchResults.asp?le

30. 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

31. 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

32. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso hallervordenspatz syndrome Association (HSSA) Contains news, research information,family pages with personal stories, publications and resources, details of http://www.1uphealth.com/links/basal-ganglia-hallervorden-spatz-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Basal Ganglia : Hallervorden-Spatz Syndrome Description See Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Sites 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. NORD - Hallervorden Spatz Disease Offers synonyms, a general discussion and further resources. OMIM National Center for Biotechnology Information. A clinical synopsis of Hallervorden-Spatz syndrome. Help build the largest human-edited directory on the web.

33. 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

Search results for "Hallervorden-Spatz Syndrome" NO MATCHES FOUND-Please select a different keyword or category OR Search AltaVista for 'Hallervorden-Spatz Syndrome' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

34. Microscopic Description -- Case 42 (1974) hallervordenspatz syndrome. Arch. Neurol. (1996) Homozygosity mappingof hallervorden-spatz syndrome to chromosome 20p12.3-p13. Nat. Genet. http://path.upmc.edu/divisions/neuropath/bpath/cases/case42/dx.html

Brain Pathology Case of the Month - September 1999 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.

35. Nature Genetics volume 14 number 4 page 479 Homozygosity mapping of hallervordenspatz syndrome tochromosome 20p12.3–p13 Todd D. Taylor 1 , Michael Litt 1 , Patricia Kramer http://www.nature.com/ng/wilma/v14n4.868546723.html

letters RETURN TO December 1996 TABLE OF CONTENTS volume 14 number 4 page 479 Todd D. Taylor , Michael Litt , Patricia Kramer , Massimo Pandolfo , Lucia Angelini , Nardo Nardocci , Suzanne Davis , M. Pineda , Haruo Hattori , Peter J. Flett , M. Roberta Cilio Enrico Bertini 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

36. 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

37. 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

Hallervorden-spatz, Maladie Menu général CISMeF Arborescence(s) Hallervorden-Spatz, maladie Hallervorden-Spatz syndrome maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Hallervorden-Spatz, maladie de - synonyme : dystrophie neuroaxonale [Par Pr Harpey JP (Hôpital Pitié-Salpétrière de Paris, Pédiatrie-Génétique Médicale). Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2001 ; visité le : 24/01/2002]. mots clés : * Hallervorden-Spatz, maladie Hallervorden-Spatz, maladie génétique type(s) : guide ressources structure recherche texte association patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

38. Conditions And Diseases: Neurological Disorders: Brain Diseases: Basal Ganglia: Conditions and Diseases Neurological Disorders Brain Diseases BasalGanglia hallervordenspatz syndrome. See also Health Conditions http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis

Find Doctors on the Treasure Coast Select Specialty Ambulatory Care Anesthesiology Cardiology Dermatology Emergency Medicine Endocrinology Family Practice Gastroenterology Hematology/Oncology Infectious Diseases Internal Medicine Maxillofacial Surgery Neonatology Nephroology Neurology Neurosurgery Obstetrics/Gynecology Ophthalmology Orthopedic Surgery Otolaryngology Pathology Pediatics Physical Medicine Plastic Surgery Podiatry Psychiatry Psychology Pulmonary Radiation Oncology Radiology Rheumatology Surgery Thoracic Surgery Urology Vascular Surgery Select City Sebastian Palm Bay Vero Beach Fort Pierce Okeechobee Port St. Lucie Jensen Beach Stuart Palm City Hobe Sound Loxahatchee MENU Home Doctor Directory Health Resources Women Only ... About Us Conditions and Diseases: Neurological Disorders: Brain Diseases: Basal Ganglia: Hallervorden-Spatz Syndrome See also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders http://www.nutrisystem.com We have helped millions of people lose weight for more than 30 years. Lose up to 10 lbs. in your first month! Hallervorden-Spatz Disease - Information sheet compiled by NINDS.

39. EMedicine - Hallervorden-Spatz Disease : Article By Neeta Garg, MD 2001). Patient Education The web site of the hallervordenspatz syndromeAssociation is quite helpful (see http//www.hssa.org). http://www.emedicine.com/NEURO/topic151.htm

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 Hallervorden-Spatz Disease 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

40. 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

La maladie de Hallervorden-Spatz Auteur: Professeur Jean-Paul Harpey Editeur scientifique : Professeur Alexis Brice : septembre 2002 Synonymes Hallervorden-Spatz syndrome de (HSS) Dystrophie neuro-axonale tardive Neurodegeneration with Brain Iron Accumulation 1 (NBIA 1) Pantothenate Kinase Associated Neurodegeneration (PKAN) - couleur rouille du globus pallidus et de la substantia nigra, - coloration bleue de ces structures avec la coloration de Perls, (Schaffert et al et al. in vivo et al. D’autres maladies peuvent donner des troubles dystoniques et une image semblable ou voisine en IRM telles: et al. et al. Incidence Description clinique et al. (1974), sont toujours valables. Prise en charge et traitement Etiologie PANK ). L'enzyme PANK b PANK et al. En plus de l'enzyme PANK - PANK - PANK - PANK fbl PANK causent le HSS. R w Diagnostic biologique et al. et al. PANK et al. et al. (Ching et al. Commentaires et al. Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M: Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neurol. 239: 417-425, 1992. Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ.

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