61. Hallervorder-Spatz, Neuroaxonal Dystrophy hallervordenspatz syndrome Neuroaxonal Dystrophies. Susan Hayflick,MD, FACMG Molecular and Medical Genetics and Pediatrics OHSU http://www.waisman.wisc.edu/child-neuro/seekpt-f/hs.html

Hallervorden-Spatz Syndrome Susan Hayflick, MD, FACMG Molecular and Medical Genetics and Pediatrics OHSU, mail code L103 3181 SW Sam Jackson Park Rd. Portland, OR 97201 Phone: (503)494-6866 Fax: (503)494-6886 E-mail: hayflick@ohsu.edu My laboratory recently mapped a major gene for HSS and is working in collaboration with Jane Gitschier, Ph.D. at UCSF to clone this gene. Our intent in to shed some light on this disorder about which there is very little biochemical information known. We seek patients with either typical or atypical HSS phenotypes for inclusion in this research. We are also investigating the neuroaxonal dystrophies and seek patients with one of these disorders, as well. Our study is approved by the OHSU IRB and is NIH funded. Go back to Child-Neuro Homepage Go back to Clinical Studies Seeking Patients page Last updated 05 October 1999

62. Kirkskreepykorner HALLERVORDEN SPATZ SYNDROME ASSOCIATION. MAKE - A - WISH FOUNDATION. hallervorden-spatz syndrome ASSOCIATION. Click on a link below to see which way you go. http://kirkskreepykorner.homestead.com/KREEPYKORNERHOME.html

Halloween Horrors Mystery Ghost Bus Haunted House ... MAKE - A - WISH FOUNDATION This page was last updated on: October 6, 2002 ABOUT THE MAKERS OF KIRKS KREEPY KORNER DIRECTIONS TO KIRKS KREEPY KORNER MAKE - A - WISH FOUNDATION HALLERVORDEN- SPATZ SYNDROME ASSOCIATION Click on a link below to see which way you go Haunted Wisconsin Haunt Finder Scream Seekers Haunted House ... Horrors

63. Listings Of The World Health Conditions And Diseases hallervordenspatz syndrome Association (HSSA) Post Review Contains news, researchinformation, family pages with personal stories, publications and resources http://listingsworld.com/Health/Conditions_and_Diseases/Neurological_Disorders/B

64. ASENT | NeuroRx Newsletter - Role Of Iron In Neurodegeneration hallervordenspatz syndrome Gene Defect Identified hallervorden-spatz syndrome(HSS) is a progressive, autosomal neurodegenerative disorder of childhood and http://www.asent.org/newsletter/2001/september/

Volume 1, Issue 4 September 2001 What's Inside Role of Iron in Neurodegeneration A Vaccine for Prion Disease? and Related Articles Industry News News from Other Countries ... Employment Opportunities The Role of Iron in Neurodegeneration Excessive iron accumulation has been reported in the brains of patients with Parkinson’s or Alzheimer’s disease, and it has been postulated that abnormal iron accumulation in the brain is neurotoxic through the generation of free radicals. However, it remains unclear whether iron-induced oxidative stress is a primary or a secondary event in the process that leads to neuronal death. Two recent reports suggest that - at least in some cases - iron toxicity may be a primary event in neurodegeneration. Neuroferritinopathy Causative Gene Identified In recent years, Curtis et al have described a previously unrecognized adult-onset neurodegenerative disease that affects the basal ganglia and is associated with iron accumulation. The disease is dominantly inherited and presents with extrapyramidal symptoms and low ferritin serum levels. Histopathology is characterized by lesions in the globus pallidus with abundant spherical inclusions containing aggregates of ferritin and iron. Additionally, axonal swellings are found throughout the brain and are immunoreactive for ubiqutin and tau. Within the brain, only the basal ganglia appear to be affected. Outside the brain, organs such as the pancreas, liver, and heart that are typically affected in iron accumulation disease, appear to function normally.

65. Hallervorden-Spatz Syndrome Website Results :: Linkspider UK hallervordenspatz syndrome Websites from Linkspider UK. Keyword Hallervorden-SpatzSyndrome. A clinical synopsis of hallervorden-spatz syndrome. http://www.linkspider.co.uk/Health/ConditionsandDiseases/NeurologicalDisorders/B

Hallervorden-Spatz Syndrome Websites from Linkspider UK Keyword: Hallervorden-Spatz Syndrome Linkspider UK Directory Hallervorden-Spatz Syndrome Search for Directory Tree: Top Health Conditions and Diseases Neurological Disorders ... Basal Ganglia : Hallervorden-Spatz Syndrome (5) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders 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. Hallervorden-Spatz Disease - Information sheet compiled by NINDS.

66. Health Library - Hallerevorden-Spatz Syndrome Hometown commitment. HallerevordenSpatz Syndrome. Self Help Clearinghouse.hallervorden-spatz syndrome Association. International network. http://www.phoebeputney.com/library/healthguide/SelfHelp/topic.asp?hwid=shc29hal

67. Health Library - Hallerevorden-Spatz Syndrome Your Health, Advanced Search. HallerevordenSpatz Syndrome. Self Help Clearinghouse.hallervorden-spatz syndrome Association. International network. http://www.tetonhospital.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29ha

68. BBC NEWS | Health | Gene Test For Rare Brain Disease area of the brain Prof Jane Gitschier. The genetic disease, knownas hallervordenspatz syndrome (HSS), affects the basal ganglia. http://news.bbc.co.uk/1/hi/health/2617337.stm

CATEGORIES TV RADIO COMMUNICATE ... INDEX SEARCH You are in: Health News Front Page World UK ... Programmes SERVICES Daily E-mail News Ticker Mobile/PDAs Text Only ... Help EDITIONS Change to World Thursday, 2 January, 2003, 01:12 GMT Gene test for rare brain disease One form of the disease surfaces in later life Scientists have developed a new test for a rare brain disorder similar to Parkinson's Disease. They have found that all patients have a distinctive pattern of brain changes which can be detected by scanning. We are now working to figure out why these defects lead to cell death and iron accumulation in this very specific area of the brain Prof Jane Gitschier The genetic disease, known as Hallervorden-Spatz Syndrome (HSS), affects the basal ganglia. A number of neurological disorders, including Parkinson's, Huntingdon's disease and Tourette's syndrome, are also believed to arise from problems in this part of the brain. Researchers hope the test could lead to a better understanding of what goes wrong as well as improved diagnosis of the rare condition. Slow progression HSS is an inherited, neurological movement disorder marked by a progressive decline of the nervous system.

69. Aritcle Abstract (Korean Version) hallervordenspatz syndrome in Two Siblings Diagnosed by the ClinicalFeatures and the Magnetic Resonance Imaging ( MRI ) = Abstract =. http://keto.gsnu.ac.kr/dwkim/article/k-hss.html

Hallervorden-Spatz Syndrome in Two Siblings Diagnosed by the Clinical Features and the Magnetic Resonance Imaging ( MRI ) = Abstract = Dong Wook Kim, Young In Choi, Ki Joong Kim, Tae Sung Ko, Yong Seung Hwang, In Won Kim* Departments of Pediatrics and Radiology*, Seoul National University Children's Hospital and Seoul National University College of Medicine, Seoul, Korea Hallervorden-Spatz syndrome ( HSS ) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and mental deterioration. No diagnostic biochemical test is yet available, and diagnosis of HSS can be confirmed only at autopsy by the characteristic neuropathology including abnormal iron storage, disordered myelination, and loss of brain substance. We present two siblings with clinical features consistent with HSS, in whom magnetic resonance imaging ( MRI ) demonstrated the deposition of iron in the globus pallidus and the substantia nigra thus allowing an antemortem diagnosis of HSS. Key Words : Hallervorden-Spatz syndrome, Magnetic resonance imaging

70. EnableNet - Enablenet.browse.browse Physical Disabilities Neurological and Neuromuscular HallervordenSpatzSyndrome hallervorden-spatz syndrome Matching Resources. Records 1-1 of 1 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2235

71. National Support Groups / Information Sites: G-H H hallervorden-spatz syndrome Association. Congenital Heart Defects. The CongenitalHeart Disease Resource Page Congenital Heart Disease Information and http://www.mostgene.org/support/g-h.htm

Directory of Online Genetic Support Groups G-H The inclusion of any resource or link in MoSt GeNe does not imply endorsement. They are provided for educational purposes only. As scientific findings and medicine are changing rapidly, we urge you to note the date of publication of all material you view. Please consult with your health care provider regarding how any information found on the Internet may apply to your own situation. - G - Galactosemia Gaucher Disease National Gaucher Foundation - USA MGH Gaucher Webpage Gaucher Association - U.K. Giant Congenital Nevus : Nevus Outreach, Inc. Glaucoma Children's Glaucoma Glaucoma Research Foundation The Glaucoma Foundation Glutaric Aciduria Homepage Association for Glycogen Storage Disease - U.K. Goldenhar Syndrome Support Network Chronic Granulomatous Disease Growth Disorders Magic Foundation for Children's Growth Growth Hormone Deficiency : At the Magic Foundation for Children's Growth - H - Hallervorden-Spatz Syndrome Association Congenital Heart Defects The Congenital Heart Disease Resource Page Congenital Heart Disease Information and Resources PediHeart Children's Heart Society : Canada Kids with Heart National Association for Children's Heart Disorders Little Hearts Hemihypertrophy Information and Support Hemochromatosis American Hemochromatosis Society Hemochromatosis Foundation, Inc.

72. Abstract Search - View All Genetic, clinical, and radiographic delineation of hallervordenspatz syndrome.2.), 01-01-2003, Mount RH, Hastings RP, Reilly S, Cass H, Charman T. http://www.cureautismnow.org/sciwatch/abstracts/

back to main page support can contact us ScienceWatch in this section reference Abstract Search autism literature review (selected) clinical studies clinical studies seeking participants public domain search engines engine-CRISP engine research studies database links to the National Institutes of Health NIH Home resources for researchers resources for the clinician and researcher diagnostic criteria for autistic disorder ... areas for investigation forum Autism Related Research Abstracts Published by the National Library of Medicine (Jan 2001 to Present) Key Word Search Advanced Search Archive Sort Results: By Field Date Title Authors Pick Direction First to Last Last to First Show records on each page Date Authors Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. Mount RH, Hastings RP, Reilly S, Cass H, Charman T. Towards a behavioral phenotype for rett syndrome. Hollander E, Novotny S, Hanratty M, Yaffe R, DeCaria CM, Aronowitz BR, Mosovich S. Oxytocin Infusion Reduces Repetitive Behaviors in Adults with Autistic and Asperger's Disorders.

73. Jason Skie's DNA Blog comment . New gene test for rare brain disease, hallervordenspatz syndromehallervorden-spatz syndrome (HSS), affects the basal ganglia. http://radio.weblogs.com/0117458/2003/01/02.html

Jason Skie's DNA Blog Home DNA Blog Discussion DNA Blog Chat ... Receive Employment Opportunities by Email Thursday, January 02, 2003 Genetically modified potato could help combat malnutrition in India A protein-rich genetically modified potato could help combat malnutrition in India, scientists say. A gene called AmA1 was added to ordinary potatoes giving them a third more protein than normal, including substantial amounts of the essential amino acids lysine and methionine. GM potato 'could improve child health' . BBC Jan 1 2003 7:46PM ET 1:39:10 AM Google It! comment [ commentCounter (77) Euro banknotes printed on genetically modified cotton Although the European Union has some of the toughest GM regulations in the world, it has ignored the transgenic cotton fibres in its own currency. Euro notes are genetically modified . The Times Jan 1 2003 4:15PM ET 1:35:43 AM Google It! comment [ commentCounter (76) Bangalore biotech community expects 2003 to be a great year BANGALORE: The year ’03 is expected to see a flood of biotech products like human insulin, streptokinase (a thrombolytic inducing agent), other vaccines and diagnostics to hit the market. Biotech's set for a spark in '03 . Economictimes Jan 1 2003 10:00PM ET 1:31:01 AM Google It!

74. Hallervorden-Spatz (syndrome D’) Translate this page hallervorden-spatz (syndrome d’). Voir également hypertonie, globus pallidus,locus niger, pigment. En anglais hallervorden-spatz's syndrome. http://www.vulgaris-medical.com/texth/hallervo.html

Hallervorden-Spatz (syndrome d’) Voir également hypertonie, globus pallidus, locus niger, pigment. En anglais : Hallervorden-Spatz's syndrome. Affection familiale rare, débutant dans l'enfance par des troubles de la marche qui sont secondaires à un excès de tonicité musculaire (hypertonie) des membres inférieurs et de tout le corps. Au cours de ce syndrome, en rapport avec la dégénérescence d'une zone du cerveau (le globus pallidus et le locus niger) qui est envahie par des pigments contenant du fer, la parole et la déglutition (avaler quelque chose) sont très difficiles. Il s'y ajoute d'autre part une agitation psychique et des mouvements involontaires. Cause Affection récessive autosomique dont on ne connaît pas l'origine. La transmission génétique de nature récessive autosomique signifie qu'il est nécessaire que les deux parents portent l'anomalie génétique pour que l'enfant ait la maladie. Symptômes Début entre 5 à 12 ans (chez quelques malades, la maladie survient plus tôt). Le premier signe de la maladie est un trouble de la marche Rigidité Tension musculaire (hypertonie) importante, se caractérisant par des spasmes de torsion

75. Liste H Translate this page Haglund (maladie ou syndrome de) Haleine fétide Halitose Hallerman, Streiff, François(syndrome d’) hallervorden-spatz (syndrome d’) Hallopeau Hallux http://www.vulgaris-medical.com/listh.html

Recherche dans cette liste Menu document.write('ACCESA UXRUBRIQUES') H Haemophilus pertussis Haglund (maladie ou syndrome de) Haleine fétide Halitose ... Hystérotomie abdominale

76. Hallervorden-spatz, Maladie : Arborescences MeSH Translate this page maladie C10.574.500.850 page CISMeF du motclef hallervorden-spatz, maladie C10.574.500.487page CISMeF du motclef Lesch Nyhan, syndrome C10.574.500.536 http://www.chu-rouen.fr/navimesh/navihallervordenspatzmaladie.html

Hallervorden-spatz, Maladie : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies système nerveux central, maladies encéphalopathies dystrophies neuroaxonales ... sclérose tubéreuse Bourneville 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

77. EMedicine - Hallervorden-Spatz Disease : Article Excerpt By: Neeta Garg, MD Background hallervordenspatz disease (HSD) is a rare disorder characterized byprogressive even suggested changing the name of the syndrome to neuroaxonal http://www.emedicine.com/neuro/byname/hallervorden-spatz-disease.htm

(advertisement) Excerpt from Hallervorden-Spatz Disease Synonyms, Key Words, and Related Terms: HSD, neurodegeneration with brain iron accumulation type1, NBIA-1, late infantile neuroaxonal dystrophy Please click here to view the full topic text: Hallervorden-Spatz Disease Background: Hallervorden-Spatz disease (HSD) is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Onset is most commonly in late childhood or early adolescence, but cases with adult onset have been described (Jankovic et al, 1985). The disease can be familial or sporadic. When familial, it is inherited recessively and has been linked to chromosome 20 (Taylor et al, 1996). Recently, a mutation in the pantothenate kinase ( ) gene on band 20p13 has been described in patients with typical HSD (Zhou et al, 2001). Hallervorden and Spatz first described the disease in 1922 as a form of familial brain degeneration characterized by iron deposition in the brain. Recently concerns have been raised regarding reports of Hallervorden and Spatz's association with Nazi activities in Germany, and some even suggested changing the name of the syndrome to neuroaxonal dystrophy (Harper, 1996). The term "neurodegeneration with brain iron accumulation type1" (NBIA-1) has been used in more recent publications (Neumann et al, 2000). Pathophysiology: The exact pathophysiology of the disease is not known. One suggestion states that abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase lead to abnormal iron accumulation in the brain. While portions of the globus pallidus and pars reticulata of substantia nigra (SN) have high iron content in healthy individuals, individuals with HSD have excess amounts of iron deposited in these areas. However, the exact role of iron in the pathogenesis of this disease remains unknown. Also, whether the deposition of iron in basal ganglia in HSD is the cause or consequence of neuronal loss and gliosis is not clear. Decreased activity of the enzyme cysteine dioxygenase was demonstrated in one affected child (Perry et al, 1985). This was postulated to lead to accumulation of cysteine in the basal ganglia, since cysteine can chelate iron and thus result in its deposition. However, these findings were not confirmed in adult patients.

78. THE LIGHTNING HYPERTEXT OF DISEASE. pallidal, pigmentary pigmentary pallidal degeneration pigmentary pallidal atrophysyndrome, hallervordenspatz hallervorden spatz syndrome hallervorden-spatz http://www.pathinfo.com/cgi-bin/lh.cgi?tx=pallidal

79. Hallervorden Spatz Disease PubMed (Medline) search on hallervordenspatz disease hallervorden-spatz Diseasefactsheet Hallevorden-Spatz syndrome Association 2082 Monaco Ct., El Cajon http://www.ion.ucl.ac.uk/library/patient/hallervorden.htm

Hallervorden Spatz disease Medline NLM definition: Progressive hereditary disorder with marked reduction in the number of myelin sheaths of the globus pallidus and substantia nigra with accumulation of iron pigment. Manifestations include dysarthria, progressive mental deterioration, and corticospinal and extrapyramidal motor signs. PubMed (Medline) search on Hallervorden-Spatz disease Hallervorden-Spatz Disease factsheet: National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays. Fax: 01270 250244 A national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Offers a telephone helpline for information, counselling and support; written information by post (detailed information only available following confirmed diagnosis, appropriate professional counselling and telephone contact); details of other agencies and sources of help; information about the latest research and whom to contact for specialist advice etc. Hallevorden-Spatz Syndrome Association 2082 Monaco Ct., El Cajon, California 92019-4235, USA.

80. Radiological Quiz - Neuroradiology 2.Dooling EC, Schoene WC, Richardson EP Jr. Hallervorden Spatz syndrome. Arch Neurol 1974; 30 7083. http://www.ijri.org/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.

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