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
Extractions: 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.
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
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
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/
Extractions: 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 Parkinsons or Alzheimers 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.
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
Extractions: 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.
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
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
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
Extractions: 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 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.
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
Extractions: 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
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
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
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/
Extractions: 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.
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
Extractions: 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 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
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
Extractions: 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
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
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
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: HSD, neurodegeneration with brain iron accumulation type1, NBIA-1, late infantile neuroaxonal dystrophy 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.
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
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
Extractions: 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. 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.
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
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:
