Central Nervous System Diseases HSSA hallervordenspatz syndrome Association - (US). Genetic aspects ofhallervorden-spatz syndrome - OMIM/NLM (US). A nineteen year old boy . http://www.mic.ki.se/Diseases/C10.228.html
Extractions: Diseases and Disorders Links pertaining to Central Nervous System Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Alzheimer Disease Arachnoiditis Brain Abscess Brain Abscess ... Uveomeningoencephalitic Syndrome Central Nervous System Diseases Nerve Cells [Lodish et al.] - Molecular Cell Biol., Chap 21, via NLM (US) Pathol. Images of the Central Nervous System - Univ of Utah (US) The Human Brain [JD MacArthur] How brain cells work [Cardoso et al.] EEG Course and Glossary [S Louis] About Normal EEG Variants [S Louis] - eMedicine The Global Brainstem '97 , the Cerebellum '97 , the Thalamus '97 , the Spinal Cord '97 - Univ. of Wisconsin (US) Mental Disorders Links
OHSU News Release OHSU RESEARCHERS DISCOVER KEY GENE BEHIND hallervordenspatz syndrome. Finding mayalso assist in developing greater understanding of Parkinson s disease, http://www.ohsu.edu/news/archive/2001/072301hss.html
Extractions: Index of current releases ... News release archive PORTLAND, "Nine years ago, when we first began our investigations, we had very little understanding behind the cause of HSS," said Hayflick, who is senior author of the paper. "Today we have made a tremendous leap towards developing therapies to slow or stop the disease, or perhaps even cure it. Additionally, while HSS is considered quite rare, it is a part of a family of neurodegenerative diseases. We're hoping that this research will also provide new hope for patients with related disorders such as Parkinson's disease." HSS is a rare but well-known genetic disorder characterized by the accumulation of iron deposits in the brain. Specifically, these deposits surface in the basal ganglia, a region that controls body movement. This results in a gradual loss of muscle control. Patients with HSS can also experience night blindness and witness the gradual loss of the ability to speak and chew food. Degeneration caused by the disease is progressive and can shorten lifespan. HSS is an autosomal recessive disorder, meaning both parents must contribute a defective PANK2 gene for the disease to surface in their offspring. When two parents both carry PANK2 mutations, there is a 25 percent chance of occurrence for the disease during each pregnancy.
Orthoguide.com Hallervorden-Spatz Syndrome Search AltaVista for hallervordenspatz syndrome Global Search - Add Url -Free Medline - Contact Us - Search. Enter Keywords to Search and Your Choice http://www.orthoguide.com/ortho/Hallervorden-Spatz_Syndrome.php3
Extractions: P. O. Box 777, Cornwall NY 12518, USA Providing and disseminating information on causes, prevention and treatment. Feedback HOME Page: A B C D ... Index The IFOND Dictionary - H Hallervorden-Spatz syndrome Hereditary disease of children. Features include generalized dystonia with predominance of oromandibular involvement, behavioral changes followed by dementia, and retinal degeneration in some cases optic atrophy. See OMIM 234200 Haplogroup An association of secondary mutations with the primary mutation in prevalence higher than normal. e.g.Johns and Berman in 1991 showed the frequency of mtDNA mutations at nucleotides 4216 and 13708 were associated more often with 11778 LHON patients than with normal controls. Johns DR, Berman J (1991) Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. [Medline] Biochem Biophys Res Commun Heteroplasmy When different cells in an organism may have different mutations of a gene. cf Homoplasmy. HIV (Human Immune deficiency Virus) Retro virus responsible for the Acquired Immune Deficiency Syndrome. Visual field defects consistent with optic nerve disease can occur in HIV infection.
Entrez PubMed BACKGROUND hallervordenspatz syndrome is an autosomal recessive disordercharacterized by dystonia http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Thieme-connect - Abstract Here, we report a patient with classic hallervordenspatz syndrome and a hallervorden-spatz syndrome - pantothenate kinase 2 - eye-of-the-tiger sign http://www.thieme-connect.com/ejournals/abstract/neuropediatrics/doi/10.1055/s-2
Extractions: Institute of Human Genetics, Technical University Munich, Munich, Germany Pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by dystonia, rigidity, and choreoathetosis. Iron deposition in conjunction with destruction of the globus pallidus gives rise to the characteristic eye-of-the-tiger sign in MRI. It has been postulated that pantothenate kinase 2 mutations underlying all cases of classic Hallervorden-Spatz syndrome are always associated with the eye-of-the-tiger sign. Here, we report a patient with classic Hallervorden-Spatz syndrome and a homozygous pantothenate kinase 2 mutation in whom the initially present eye-of-the-tiger sign vanished during the course of the disease. Thus, the alleged one-to-one correlation between the eye-of-the-tiger sign and the presence of pantothenate kinase 2 mutation does not hold true over the course of the disease in PKAN.
Extractions: WWW Medical.WebEnds.com Pigmentary Pallidal Degeneration; Hallervorden-Spatz Disease; Pigmentary Pallidal Atrophy; Atrophies, Pigmentary Pallidal; Atrophy, Pigmentary Pallidal; Degeneration, Pigmentary Pallidal; Degenerations, Pigmentary Pallidal A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY ; hyperreflexia; MUSCLE RIGIDITY DYSTONIA DYSARTHRIA ; and intellectual deterioration which progresses to severe dementia over several years. Pathologic examination reveals neuronal atrophy in the globus pallidus and iron deposition in blood vessels and perivascular spaces. (From Adams et al., Principles of Neurology
Photoclinic Adultonset hallervorden-spatz syndrome presenting as cortical dementia. First scientific workshop on hallervorden-spatz syndrome executive summary. http://www.ams.ac.ir/AIM/0472/020.htm
Extractions: Photoclinic Morteza Khajavi MD*, Mansooreh Ardeshirzadeh MD *, Yousef Shafeghati MD**, Gholam-Ali Shahidi MD*** Authors Affiliations: *Department of Psychiatry, Razi Hospital, **University of Social Welfare and Rehabilitation Sciences, ***Department of Neurology, Hazrate Rasoul Hospital, Tehran, Iran. Corresponding authors and reprints: Mansooreh Ardeshirzadeh, MD, Department of Psychiatry, Razi Hospital, Tehran, Iran. E-mail: psych1965@yahoo.com. A 25-year-old male was admitted for involuntary contractions of hands (which was prominent in the left hand) and difficulties in articulation, swallowing, and facial grimacing (pouting). His problems had started at the age of 16, with involuntary contraction of the left index finger. About 7 to 8 months later, involuntary contraction of the left 3 rd finger occurred, and then all fingers of the left hand showed the same feature and finally, the right hand was affected. In the last 10 years, dysarthria and dysphagia have developed leading to occupational incapacity of the patient as a farmer. He was the first case in the pedigree and the parents were not close relatives. His past personal or family history was not remarkable.
Alzheimer Disease And Associated Disorders - UserLogin AdultOnset hallervorden-spatz syndrome Presenting As Cortical Dementia hallervorden-spatz syndrome should be considered in the differential diagnosis http://www.alzheimerjournal.com/pt/re/adad/fulltext.00002093-200004000-00010.htm
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Extractions: Full Text PDF PDA Full Text PowerPoint Slide Set ... PubMed Citation 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 hallervordenspatz syndrome and brain iron metabolism. Arch Neurol 1991;481285-1293 . Generalized freezing in hallervorden-spatz syndrome case report. http://content.nejm.org/cgi/content/full/348/1/33
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General News For June Commentary The human genome location of hallervordenspatz syndrome, akaneurodegeneration hallervorden-spatz syndrome (HSS) (OMIM 234200) is a rare, http://www.mad-cow.org/last_sci.html
Extractions: Turn-around from June 5 Nature, page 560, 1997. It seems in the 1930's, Norman Pirie and Fred Bawden purified TMV (tobacco mosaic virus) to homogenity, even crystallizing it, and showed conclusively that every infectious particle contained nucleic acid (its RNA genome). This went against the grain of conventional wisdom of the day in the person of Wendell Stanley, subsequent Nobel laureate, who held that TMV and other viruses consisted entirely of protein! Help wanted: from June 5 Nature, ad in the back Collinge's group is looking for a research technician to help with on-going projects such as determination of human prion 3D structure, mechanism of conversion to disease isoform, site=directed mutagenesis, heterologous gene expression, and NMR, X-ray, fluorescence, steady-state and transient kinetics. (Pay is 16,000 pounds or $26,400.) Three online access points to Medline abstracts were tested on June 19, 1997.
Flanking Genes In The Prion Gene Neighborhood Homozygosity mapping of hallervordenspatz syndrome to chromosome 20p12.3-p13 . hallervorden-spatz syndrome is a rare, autosomal recessive http://www.mad-cow.org/00/ferritin_HSS.html
Extractions: Nearby diseases: AR CHED, AD CHED, and PPMD Last updated: 7 Feb 00 webmaster research Previous maps of the human genome, such as and its predecessors , have created a framework that locates a large number of microsatellites used to determine locations of human disease genes. While radiation hybrid mapping may in principle be capable of sufficient detailed mapping, as matters stand, the map in the chromosome 20p12 region lacks sufficient precision. Many markers are allocated to multiple (contradictory) positions, preventing a unique ordering as well as not providing meaningful recombination mapping distances. This causes monogenic disease research to stall out at a critical juncture associating the disease with a particular gene. If the disease can only be mapped to a 3 million base pair region, gene density is such that 30-50 different genes or more would have to be screened in the patient set and controls. A different approach was taken in the Whitehead Institute map . Here, chromosome 20 was tiled with a set of overlapping yeast artificial chromosomes (YACs); markers were positioned relative to hits on this panel. This resulted in an ordinal map: microsatellites were sequentially ordered with respect to their telomere to centromere position without any physical or centimorgan distances resulting. It quickly emerges that this map is superior in accuracy to GenMap99.
Hallervorden-Spatz Disease hallervordenspatz syndrome; late infantile neuroaxonal dystrophy; NeuroaxonalDystrophy, Late Infantile; Pigmentary Degeneration of Globus Pallidus, http://www.icongrouponline.com/health/Hallervorden-Spatz_Disease.html
Extractions: (Hallervorden-Spatz Syndrome; late infantile neuroaxonal dystrophy; Neuroaxonal Dystrophy, Late Infantile; Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus; pigmentary pallidal degeneration syndrome; Progressive Pallid Degeneration Syndrome; progressive pallidal degeneration syndrome) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Hallervorden-Spatz Disease. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Hallervorden-Spatz Syndrome; late infantile neuroaxonal dystrophy; Neuroaxonal Dystrophy, Late Infantile; Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus; pigmentary pallidal degeneration syndrome; Progressive Pallid Degeneration Syndrome; progressive pallidal degeneration syndrome Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Hallervorden-Spatz Disease: Guidelines
JW Neurology -- Sign In New Tests Diagnosis of hallervordenspatz syndrome. In 2001, Hayflick and colleaguesidentified mutations in a gene localized to chromosome 20p13 that http://neurology.jwatch.org/cgi/content/full/2003/307/8
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Extractions: Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Archives of Disease in Childhood The first 150 words of the full text of this article appear below. Hallervorden and Spatz reported a rapidly progressive neurodegenerative disease of early onset in a German journal of neurology and psychiatry in 1922. The main clinical features are dystonia, dysarthria and rigidity, rapid progression, and early death. Until recently the diagnosis depended on clinical features and CT or MRI abnormalities in the globus pallidus. Pathologically, there is iron accumulation in the basal ganglia with destruction of the pallidum and substantia nigra. The classic disease is
