21. Mineralization Of The Basal Ganglia Detected By CT In Hallervorden-Spatz Syndrom We studied a patient with autopsyproven hallervorden-spatz syndrome (HSS) andthe previously unreported finding of high-density lesions in the basal http://www.neurology.org/cgi/content/abstract/38/1/154

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Tennison, M. B. Articles by Whaley, R. A. JOURNAL ARTICLE Mineralization of the basal ganglia detected by CT in Hallervorden-Spatz syndrome MB Tennison, TW Bouldin and RA Whaley Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill 27514. We studied a patient with autopsy-proven Hallervorden-Spatz syndrome (HSS) and the previously unreported finding of high-density lesions in the basal ganglia on CT. The diagnosis of HSS should be considered in a patient with dystonia and basal ganglia mineralization on CT.

22. Penn State Faculty Research Expertise Database (FRED) A rare autosomal recessive degenerative disorder which usually presents in late childhood or......Back. hallervordenspatz syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Neurology -- Correspondence For Daroff, 64 (4) 588-589 Dr. Daroff’s comments to the contrary, hallervordenspatz syndrome (HSS) is nolonger a universally accepted eponym. Hayflick et al 1, the discovers of http://www.neurology.org/cgi/eletters/64/4/588

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Correspondence: When an article is eligible for submission of Correspondence, a link to the response form is available within the full-text article. You must be a current subscriber who has activated the online portion of your subscription in order to send a Correspondence. Any reader can read published Correspondence. Correspondence to: EDITORIALS: Robert B. Daroff Report from the Neurology Scientific Integrity Advisor: Year 1 Neurology 2005; 64: 588-589 [Full text] [PDF] Correspondence: Submit a response to this article Correspondence published: Reply to Albin Robert B. Daroff, M.D., Robert C. Griggs, MD - Editor-in-Chief, Neurology (11 May 2005) Report from the Neurology Scientific Integrity Advisor: Year 1 Roger L. Albin (11 May 2005) Reply to Albin 11 May 2005 Robert B. Daroff, M.D., Scientific Integrity Advisor, Neurology CASE School of Medicine, 10900 Euclid Ave. - T101, Cleveland, OH 44106-4994 Robert C. Griggs, MD - Editor-in-Chief, Neurology

24. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Neurological_Disor More books about hallervordenspatz syndrome . hallervorden-spatz syndromeAssociation (HSSA) - Contains news, research information, family pages with http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Neurologica

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Basal Ganglia : Hallervorden-Spatz Syndrome Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Search Google: Hallervorden-Spatz Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

25. Hallervorden-Spatz Syndrome Topic - Unified Search Environment hallervordenspatz syndrome MSH/MH/D006211 MSH/PM/D006211 Dystonia MusculorumDeformans hallervorden-spatz syndrome Hepatolenticular Degeneration http://www.use.hcn.com.au/portals/shared/subject.`Hallervorden-Spatz Syndrome`/h

Hallervorden-Spatz Syndrome Topic Tree Definition: Synonyms and Source Vocabularies: Hallervorden-Spatz Syndrome Pigmentary Pallidal Atrophy Pigmentary Pallidal Degeneration Hallervorden-Spatz Disease Brain Diseases Akinetic Mutism Amblyopia Auditory Diseases, Central Basal Ganglia Diseases Dystonia Musculorum Deformans Hallervorden-Spatz Syndrome Hepatolenticular Degeneration Huntington Disease ... Traumatic brain injuries

26. Department Of Human Genetics - Clinical Laboratory And Patient Services PANK2 Sequencing for hallervordenspatz syndrome/PKAN Testing. Thank you for yourinquiry regarding PANK2 sequence analysis for individuals with a clinical http://genes.uchicago.edu/clinic/PANK2Test.html

Clinical Laboratory Services Sequencing for Hallervorden-Spatz Syndrome/PKAN Testing Thank you for your inquiry regarding PANK2 sequence analysis for individuals with a clinical diagnosis of Hallervorden-Spatz syndrome/pantothenate kinase associated neurodegeneration (PKAN). Mutations in the PANK2 gene have recently been identified in patients with PKAN1. Preliminary findings suggest that about 70% of patients with a clinical diagnosis of PKAN have mutations in the PANK2 gene, while greater than 90% of patients with classical MRI findings have mutations in the PANK2 gene (Dr. Hayflick, personal communication). Sample submission paperwork and instructions are included with this fax. Sample specifications 5 cc of blood in a lavender top/EDTA tube Turn-around-time: 4 - 6 weeks Cost: CPT codes: * 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 x 2, 83894, 83912), and prenatal samples can be tested for a fee of $540 per sample (CPT codes: 83891, 83898 x 2, 83894, 83912, 88235-52). Please contact UCGS personnel if you wish to discuss the specifics of your case or if you have any other questions.

27. Penn State Faculty Research Expertise Database (FRED) , A rare autosomal recessive degenerativedisorder Hallervorden Spatz Syndrome, Pallidal Atrophies, Pigmentary......hallervordenspatz syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D006211

28. Patient 41 Selftest hallervordenspatz syndrome and Wilson s disease may be reliably distinguished A. In hallervorden-spatz syndrome, lenticular degeneration results from http://www.bcm.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?

29. Baylor Neurology Case Of The Month The hallervordenspatz syndrome has been described in families from a variety of The MRI findings in patients with hallervorden-spatz syndrome are http://www.bcm.edu/neurol/challeng/pat41/summary.html

Patient #41 Summary and Discussion Aliya Sarwar, M.D., and Dennis R. Mosier, M.D., Ph.D. Diagnosis: Hallervorden-Spatz syndrome Summary This 13 year old boy experienced the onset of predominantly dystonic motor symptoms at age 5, with progression over time from task-specific, mild dystonias to more chronic and severe involvement of all limbs. Although he did not exhibit noticeable impairment of cognition, an older sister was severely affected, with progressive generalized dystonias and cognitive impairment. Although the family history suggests involvement of succeeding generations, the presence of parental consanguinity is consistent with the possibility of a recessively inherited disorder. On T2-weighted MRI, very low signal intensity was seen in the globus pallidus, red nucleus, and substantia nigra, consistent with increased iron deposition in these structures. This clinical presentation is highly suggestive of the Hallervorden-Spatz syndrome , also known as neurodegeneration with brain iron accumulation , type 1 (NBIA1; see note 1).

30. Neurodegeneration With Brain Iron Accumulation Type 1 hallervordenspatz syndrome; HSS; Pantothenate Kinase Associated Neurodegeneration This disorder was formerly known as hallervorden-spatz syndrome, http://www.bchealthguide.org/kbase/nord/nord179.htm

var hwPrint=1;var hwDocHWID="nord179";var hwDocTitle="Neurodegeneration with Brain Iron Accumulation Type 1";var hwRank="1";var hwSectionHWID="nord179-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Neurodegeneration with Brain Iron Accumulation Type 1 Important It is possible that the main title of the report Neurodegeneration with Brain Iron Accumulation Type 1 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Hallervorden-Spatz Syndrome HSS Pantothenate Kinase Associated Neurodegeneration (PKAN) Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus Disorder Subdivisions None General Discussion Neurodegeneration with Brain Iron Accumulation Type 1 (Hallervorden-Spatz syndrome) is a rare, inherited, neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). Recently, one of the genetic causes was identified; however, there are probably other causative genes that exist that have not yet been found. Approximately 50% of individuals with a clinical diagnosis of NBIA1 have gene mutations in PANK2, which helps to metabolize vitamin B5. The common feature among all individuals with NBIA1 is iron accumulation in the brain, along with a progressive movement disorder. Individuals can plateau for long periods of time and then undergo intervals of rapid deterioration. Symptoms may vary greatly from case to case, partly because the genetic cause may differ between families. There are likely different genes that cause NBIA1 and furthermore different mutations within a gene that could lead to a more or less severe presentation. The factors that influence disease severity and the rate of progression are still unknown.

31. Hallerevorden-Spatz Syndrome - [Support Group] Provides emotional support to families affected by hallervordenspatz syndrome,a rare, progressive neurological disorder, resulting in iron deposits in the http://www.bchealthguide.org/kbase/shc/shc29hal.htm

var hwPrint=1;var hwDocHWID="shc29hal";var hwDocTitle="Hallerevorden-Spatz Syndrome";var hwRank="1";var hwSectionHWID="shc29hal-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; Self Help Clearinghouse Hallerevorden-Spatz Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Neurodegeneration with Brain Iron Accumulation International network. Founded 1996. Provides emotional support to families affected by Hallervorden-Spatz syndrome, a rare, progressive neurological disorder, resulting in iron deposits in the brain that causes loss of muscle control. Educates public on HSS, and supports and monitors research. Newsletter, literature, phone support network, pen pals, advocacy efforts. WRITE: NBIA Disorders Assn.

32. NORD/HSSA Research Awards For Hallervorden-Spatz Syndrome NORD/HSSA Research Awards for hallervordenspatz syndrome. September, 2002.Each grant is a one year, $30000 seed grant. These grants are intended to http://www.nbiadisorders.org/researchgrants.htm

Research Update PKAN Knock-out Mice created and studied at UCSF - April, 2005 By Allison Gregory The NBIA research teams at UCSF and OHSU recently published an article in the journal Human Molecular Genetics describing the creation and analysis of a PKAN knock-out mouse. Knock-out mice are animals that have had a certain gene inactivated, or “knocked out.” In this case, the (the mouse gene is referred to in lower case letters, while the human gene is written in all capitals) gene was knocked out, which resulted in a mouse version of classic PKAN. Knock-out mice can be extremely helpful to researchers by giving clues about the underlying causes of diseases. They also provide an initial way to test possible treatments. Since mice reproduce relatively rapidly (a female mouse is pregnant for only about 20 days before giving birth to a litter of pups), it is possible to design different crosses of mice and collect several generations over a short period of time. How to make a knock-out mouse Several advances in technology have made what was previously a stupendous feat a common research tool.

33. Hallervorden-Spatz Syndrome Families - Page One hallervordenspatz syndrome Families Page One (This page updated November 25, 2001).a-forstall.jpg (10522 bytes). tForstall.jpg (10885 bytes) http://www.nbiadisorders.org/families01.htm

Hallervorden-Spatz Syndrome Families Page One (This page updated November 25, 2001) These are pictures of two sisters, April and Tracie Flinn. April (left) is 19, and Tracie is 17. They live in Northridge, California. April began having HSS symptoms at the age of 8, while Tracie was 11. April and Tracie attend Wheelchair Sports Camp at California State University, Northridge. They played tennis, basketball and archery, as well as swimming. The equipment was adapted to each individual. There were volunteers for each person depending on their level of need. It was a wonderful experience for the girls. Thomas Hayes and his dad, Jim, work together in the kitchen of their home in Ben Lomand, CA. Jim was 22 when he was diagnosed with HSS, he is now 28. Kimberly is 15 and in the ninth grade at her local high school. She is pictured here with her one-on-one aide, Tanya Ball, who goes to classes with her and helps to facilitate her learning. Kimberly Wood of El Cajon, CA

34. EMedicine - Hallervorden-Spatz Disease : Article By Philip A Hanna, MD Hayflick SJ First scientific workshop on hallervordenspatz syndrome executive Swaiman KF hallervorden-spatz syndrome and brain iron metabolism. http://www.emedicine.com/neuro/topic151.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Movement And Neurodegenerative Diseases Hallervorden-Spatz Disease Last Updated: August 9, 2005 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: Philip A Hanna, MD , Associate Professor, Department of Neuroscience, Seton Hall University School of Graduate Medical Education; Director, Parkinson Disease and Movement Disorders Center, Residency Program Direc, New Jersey Neuroscience Institute, JFK Medical Center Coauthor(s): Philip A Hanna, MD , Associate Professor, Department of Neuroscience, Seton Hall University School of Graduate Medical Education; Director, Parkinson Disease and Movement Disorders Center, Residency Program Direc, New Jersey Neuroscience Institute, JFK Medical Center

35. A Novel Pantothenate Kinase Gene (PANK2) Is Defective In Hallervorden-Spatz Synd hallervordenspatz syndrome (HSS) is an autosomal recessive Homozygosity mappingof hallervorden-spatz syndrome to chromosome 20p12.3-p13. http://www.nature.com/ng/journal/v28/n4/full/ng572.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics A novel pantothenate kinase gene ( ) is defective in Hallervorden-Spatz syndrome Bing Zhou , Shawn K. Westaway , Barbara Levinson , Monique A. Johnson , Jane Gitschier Departments of Molecular and Medical Genetics, Pediatrics and Neurology, 3181 SW Sam Jackson Park Road, Oregon Health and Science University, Portland, Oregon 97201, USA. Correspondence should be addressed to Susan J. Hayflick hayflick@ohsu.edu Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course . Histologic study reveals iron deposits in the basal ganglia . In this respect, HSS may serve as a model for complex neurodegenerative diseases, such as Parkinson disease

36. A Novel Pantothenate Kinase Gene (PANK2) Is Defective In Hallervorden-Spatz Synd hallervordenspatz syndrome (HSS) is an autosomal recessive neurodegenerativedisorder associated with iron accumulation in the brain. http://www.nature.com/ng/journal/v28/n4/abs/ng572.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics A novel pantothenate kinase gene ( ) is defective in Hallervorden-Spatz syndrome Bing Zhou , Shawn K. Westaway , Barbara Levinson , Monique A. Johnson , Jane Gitschier Departments of Molecular and Medical Genetics, Pediatrics and Neurology, 3181 SW Sam Jackson Park Road, Oregon Health and Science University, Portland, Oregon 97201, USA. Correspondence should be addressed to Susan J. Hayflick hayflick@ohsu.edu Hallervorden-Spatz syndrome (HSS) is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course . Histologic study reveals iron deposits in the basal ganglia . In this respect, HSS may serve as a model for complex neurodegenerative diseases, such as Parkinson disease

37. HUM-MOLGEN DIAGnostics/Clinical Research 15/12/95 Hallervorden hallervordenspatz syndrome. Samples are needed for linkage analysis to map thegene(s) for hallervorden-spatz syndrome. We are interested in collecting http://hum-molgen.org/clinical/151295-2.html

HUM-MOLGEN DIAGnostics/Clinical Research Hallervorden-Spatz syndrome Samples are needed for linkage analysis to map the gene(s) for Hallervorden-Spatz syndrome. We are interested in collecting samples from patients with the classic juvenile form as well as from those with later onset and atypical forms of the disease. Susan J. Hayflick, M.D. hayflick@ohsu.edu

38. HUM-MOLGEN Archive: DIAG, CALL: Spatz S./histiocyoma-lymphoma-retinitis DIAG message contains 2 submessage(s) 1) hallervordenspatz syndrome 2) for linkage analysis to map the gene(s) for hallervorden-spatz syndrome. http://hum-molgen.org/mail-archive/1995-Nov/msg00005.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti: DIAG, CALL: Spatz S./histiocyoma-lymphoma-retinitis archive of HUM-MOLGEN mails Author Prev Author Next Thread Prev ... HUM-MOLGEN@NIC.SURFNET.NL Subject : DIAG, CALL: Spatz S./histiocyoma-lymphoma-retinitis From GAMBACORTI@icil64.cilea.it Date : Tue, 7 Nov 1995 08:24:37 MET-DST Prev by Author: DIAG: Neuroacanthocytosis/Accuracy in mol. gen. tests Next by Author: NEWS: in Bioscience and Medicine Prev by thread: CALL: various Next by thread: LITE: Preview Human Molecular Genetics 4:12 (dec 1995 issue) Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

39. Arch Neurol -- Abstract: Hallervorden-Spatz Syndrome, December 1977, Vakili Et A hallervordenspatz syndrome. S. Vakili, AL Drew, S. Von Schuching, D. Becker and W.Zeman. Two siblings with hallervorden-spatz syndrome showed striking http://archneur.ama-assn.org/cgi/content/abstract/34/12/729

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 34 No. 12, December 1977 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Vakili S Zeman W Contact me when this article is cited Hallervorden-Spatz syndrome S. Vakili, A. L. Drew, S. Von Schuching, D. Becker and W. Zeman Two siblings with Hallervorden-Spatz syndrome showed striking homotypism and homochronism. Neuropathologic examination and electron microscopic studies were done; neutron activation analysis showed an increase in the uptake of iron in the basal ganglia. Of particular relevance is the application of radioactive iron studies in the clinical course of this syndrome. These studies disclosed an increase in the uptake of iron in the

40. Arch Neurol -- Abstract: Hallervorden-Spatz Syndrome And Brain Iron Metabolism, hallervordenspatz syndrome and brain iron metabolism. KF Swaiman Department ofNeurology, University of Minnesota Medical School, Minneapolis. http://archneur.ama-assn.org/cgi/content/abstract/48/12/1285

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 48 No. 12, December 1991 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Swaiman KF Articles that cite this article Contact me when this article is cited Hallervorden-Spatz syndrome and brain iron metabolism K. F. Swaiman Department of Neurology, University of Minnesota Medical School, Minneapolis. Aberrant iron metabolism in the brain is typified by Hallervorden-Spatz syndrome. In this disorder, large amounts of iron are deposited in the globus pallidus and the pars reticulata of the substantia nigra. It is characterized by extrapyramidal dysfunction, as demonstrated by dystonia, rigidity, and choreoathetosis; onset during the first two decades of life;

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