Extractions: Perspective ... Chapters at Harrison's ABSTRACT Background recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase neurodegeneration. In this study, we compared the clinical and syndrome with and without mutations in Methods One hundred twenty-three patients from 98 families with on the basis of clinical assessment as having classic disease (characterized by early onset with rapid progression) or atypical disease (later onset with slow progression). Their genomic DNA was sequenced for mutations. Results and one third of those with atypical disease had mutations.
NEJM -- Sign In Next Next. Genetic, Clinical, and Radiographic Delineation of HallervordenSpatz Syndrome. Susan hallervordenspatz syndrome. Arch http://content.nejm.org/cgi/content/full/348/1/33
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Extractions: Pantothenate kinase associated neurodegeneration (PKAN) Hallervorden-Spatz Disease is a rare, inherited, neurological movement disorder characterized by the progressive degeneration of the nervous system. Symptoms may vary greatly and include slow writhing and distorting muscle contractions (dystonia), muscular rigidity, sudden involuntary muscle spasms (spasticity), progressive confusion, disorientation, and/or deterioration of intellectual abilities (dementia). Hallervorden-Spatz Disease typically develops during childhood, although occasionally the disease may begin during adulthood.
Neurodegeneration With Brain Iron Accumulation Type 1 Neurodegeneration with Brain Iron Accumulation Type 1 (hallervordenspatz syndrome) is a rare, inherited, neurological movement disorder characterized by the http://my.webmd.com/hw/health_guide_atoz/nord179.asp
Extractions: 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.
Hallerevorden-Spatz Syndrome Provides emotional support to families affected by hallervordenspatz syndrome, a rare, progressive neurological disorder, resulting in iron deposits in the http://my.webmd.com/hw/health_guide_atoz/shc29hal.asp
Extractions: 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.
:: Ez2Find :: Hallervorden-Spatz Syndrome Guide hallervordenspatz syndrome, Global Metasearch Any Language Guides, hallervorden-spatz syndrome. ez2Find Home Directory Health http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
Extractions: Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode Guides Hallervorden-Spatz Syndrome Web Sites Hallervorden-Spatz Disease [Site Info] [Translate] [Open New Window] Hallervorden-Spatz Syndrome Association (HSSA) [Site Info] [Translate] [Open New Window] Contains news, research information, family pages with personal stories, publications and resources, details of fund-raising efforts and association history. URL: http://www.hssa.org
Orthoguide.com Hallervorden-Spatz Syndrome Search results for hallervordenspatz syndrome . NO MATCHES FOUND-Please select a different keyword or category OR. Search AltaVista http://www.mymedline.com/ortho/Hallervorden-Spatz_Syndrome.php3
Penn State Faculty Research Expertise Database (FRED) , Disease. Hallervorden Spatz Syndrome, Pallidal Atrophies, Pigmentary.Faculty Research Expertise Database. hallervordenspatz syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D006211
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.:
La Maladie De Hallervoden-Spatz Translate this page Synonymes hallervorden-spatz syndrome de (HSS) Dystrophie neuro-axonale tardive Neurodegeneration with Brain Iron Accumulation 1 (NBIA 1) Pantothenate Kinase http://www.orpha.net/data/patho/FR/fr-PKAN.html
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Extractions: sequence analysis is indicated for individuals with a clinical diagnosis of Hallervorden-Spatz syndrome/pantothenate kinase associated neurodegeneration (PKAN). Mutations in the gene have recently been identified in patients with PKAN . Preliminary findings suggest that about 70% of patients with a clinical diagnosis of PKAN have mutations in the gene while greater than 90% of patients with classical MRI findings have mutations in the gene (Dr. Hayflick, personal communication). Sample specifications: 5 cc of blood in a lavender top/EDTA tube CPT codes: 83891, 83898 x4, 83904 x5, 83912 * 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 x2, 83894, 83912). Please contact UCGS personnel if you wish to discuss the specifics of your case, or if you have any questions. Zhou et al., A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 2001. Nature Genetics, 28(4):345-349
Hssafamilyinfo.htm hallervordenspatz syndrome An overview. Hallervorden Family Support Information Research into the Cause of hallervorden-spatz syndrome. My http://www.ohsu.edu/genetics/hayflick/genesjh/hssafamilyinfo.htm
Extractions: Hallervorden-Spatz Syndrome: An overview Hallervorden-Spatz syndrome (HSS) is the name given to a group of disorders that share the common feature of iron deposits in the brain. Though the causes of HSS are not known, the condition has been well-described in the medical literature for more than fifty years. While it is a rare disorder, most neurologists and geneticists are familiar with the condition and know what features to look for in order to make the diagnosis. Sometimes, however, HSS can be a tough diagnosis to figure out and it may come only after years of hunting for an answer. Since HSS is a genetic condition, there may be several people affected in a family. Treatment is aimed at alleviating the symptoms but often provides only partial relief. Physicians and scientists are working diligently to better understand HSS and its causes in order to develop better therapies aimed at treating the underlying problem. Not all HSS is the same disease. The most common form of HSS, which I call classical HSS, has very distinctive features. The main features of classical HSS are iron deposits in the brain, night blindness (retinitis pigmentosa) and uncontrolled muscle spasms (dystonia). Other features may include difficulty with speech (dysarthria), problems of thinking (dementia), seizures, uncontrolled writhing movements (chorea) and tremor. Classical HSS nearly always has its first signs in childhood. These presenting signs or symptoms may include difficulty with walking or balance or problems with speech. Some children have delay in their general development from infancy. Regardless of when the first signs of HSS show, this condition is always progressive. Children and adults with HSS develop increasing difficulties as well as new signs and symptoms as they get older.
PMCB Faculty Susan Hayflick To investigate the genes involved in brain iron metabolism, we study hallervordenspatz syndrome, a rare childhood onset autosomal recessive disorder with loss http://www.ohsu.edu/pmcb/facultyresearch/hayflick.shtml
Extractions: Go to: personal webpage Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J and Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 2001. Nature Genetics 28(4):345-349. Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KHL, Gitschier J. Genetic, clinical and radiographic delineation of Hallervorden-Spatz syndrome. 2003. New England Journal of Medicine 348(1): 33-40. Johnson MA, Kuo YM Westaway SK, Parker SM, Gitschier J, Hayflick SJ. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. 2003. Annals of the New York Academy of Sciences. In press More publications PMCB Home Admission Prospective Students ... Contact
Patient 41 Selftest Patient 41 hallervordenspatz syndrome. A. In hallervorden-spatz syndrome, lenticular degeneration 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.
Baylor Neurology Case Of The Month Diagnosis hallervordenspatz syndrome Summary. The hallervorden-spatz syndrome has been described in families from a variety of ethnic backgrounds. http://www.bcm.tmc.edu/neurol/challeng/pat41/summary.html
Extractions: 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).
Extractions: Front Page Today's Digest Week in Review Email Updates ... Basal Ganglia Hallervorden-Spatz Syndrome (5 links) See Also: News about Hallervorden-Spatz Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004)
Extractions: Pantothenate kinase is a cytosolic enzyme responsible for the first step in the biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5). Four genes encoding pantothenate kinase have been identified: PANK1 (expressed in heart, liver, kidney), PANK2 (ubiquitous), PANK3 (predominantly liver), and PANK4 (ubiquitous, predominantly muscle). Mutations in PANK2, which is the most abundantly expressed form in the brain, have recently been implicated in pantothenate kinase associated neurodegeneration (PKAN, see OMIM 234200 OMIM 606157 ), an autosomal recessive neurodegenerative disorder characterized clinically by dystonia and often optic atrophy or pigmentary retinopathy and biochemically by iron deposits in the basal ganglia and globus pallidus (Zhou et al. 2001). The mutations identified in PANK2 fall into exons 1C, 2, 3, 4, 5, and 6. Missense mutations resulting in non-conservative amino acid changes were found in 32 of 38 classical PANK cases. All 17 mutations found in atypical PKAN cases were missense mutations. It seems plausible that some of these mutations will lower PANK activity by affecting the affinity of the enzyme for pantothenate substrate. Such cases may prove to be responsive to high-pantothenate therapy.
»»Reviews For Hallervorden-Spatz Syndrome«« hallervordenspatz syndrome Reviews. Book reviews for hallervorden-spatz syndrome sorted by average review score The Polio Paradox http://www.booksunderreview.com/Health/Conditions_and_Diseases/Neurological_Diso
Extractions: Buy one from zShops for: Average review score: Dr. Bruno is the utmost authority! If you or someone you love is a polio survivor, this is a MUST read. Informative and written in plain language that a layman can understand! Thank you Dr. Bruno for enlightening me! If you have CFS/ME, you need to read this book! After 25 plus years of questions about what in the US has ridiculously been labeled; CFS, The Post Polio Paradox truly explains even unusual and vague symptoms that I never would have connected to CFS. It all makes sense now. Though detailed, Dr.Bruno keeps it fairly simple. He really gives a 'from the heart' explanation of the trauma polio victims went through,and what many are experiencing now. Even those of us with CFS/ME, who though perhaps not 'diagnosed' with polio need to look into this in order to preserve our health, as we know it. I thank God for the patient/doctor interaction with a listening ear that has given Dr.Bruno the ability to really care for his patients,helping them, and share skillfully this terrific, realistic, informative book. After this book I read "A Virus Within" by Nicholas Regush, which expanded even more understanding the "WHY?" of it all. Another must read for CFS/ME sufferers, or those who love them.
