Extractions: Vol Page [Advanced] This Article Extract 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 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
234200 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN All patients with classic hallervordenspatz syndrome and one-third of those with Meyer, A. The hallervorden-spatz syndrome.In Greenfield, JG (ed. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:234200] -e
Extractions: Purpose of review: After the recent discovery of the major genetic defect in neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome), this heterogeneous group of disorders can now be differentiated by clinical, radiographic, and molecular features. Summary: Recent insight into the biochemical basis of PKAN has led to novel ideas for rational therapies. Investigations are under way to enable testing of promising compounds, first in animal models of disease and then in human patients. Identification of the genetic basis for the major form of NBIA has allowed more accurate clinical delineation of the specific diseases that compose this group, a new molecular diagnostic test for PKAN, and hypotheses for treatment of this neurodegenerative disorder.
Current Opinion In Pediatrics - UserLogin Unraveling the hallervordenspatz syndrome pantothenate Hallervorden-Spatzsyndrome encompasses several disorders that share the feature of basal http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-200312000-00005.htm
Final Diagnosis -- Case 207 (1996) Homozygosity mapping of hallervordenspatz syndrome to chromosome 20p12.3-p13.Nat. (1991) hallervorden-spatz syndrome and brain iron metabolism. http://path.upmc.edu/cases/case207/dx.html
Extractions: FINAL DIAGNOSIS: NEURODEGENERATION WITH AXONAL SPHEROIDS AND IRON DEPOSITION (NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; HALLERVORDEN-SPATZ DISEASE). DISCUSSION Hallervorden-Spatz disease (HSD) is a progressive neurodegenerative disease first described in two sisters in 1922 (1). The onset of symptoms is during the first two decades of life and mean survival is approximately 11 years; The clinical features may include progressive motor disorder characterized mainly by "extrapyramidal" signs, typically dystonia, choreoathetosis, tremor, dysarthria, muscular rigidity, and mental deterioration evolving to dementia. Other clinical features may include seizures, corticospinal tract involvement with spasticity and retinitis pigmentosa (2). Approximately one half of HSD cases are familial with an autosomal recessive pattern of inheritance. Recently a locus harboring the putative HSD gene was identified, by homozygocity mapping, on chromosome 20p12.3-p13. (3). Adult-onset HSD cases have been described and in rare cases acanthocytosis is also present. HSD-like cases with acanthocytosis, retinitis pigmentosa and pallidal degeneration with or without hypoprebetalipoproteinemia, have also been described (4, 5). Clinical criteria have been proposed to aid in the diagnosis of HSD but it is often difficult to arrive at the correct diagnosis without postmortem brain examination (6, 7). There is, currently, no treatment for HSD and management is directed at controlling specific symptoms.
Extractions: ALS/MND Like Diseases In many countries, ALS is regarded as just one form of several related Motor Neurone Diseases. In these countries the broader (and perhaps more accurate) term "Motor Neurone Disease" is used instead of ALS. There are some symptoms that occur in "textbook" cases of ALS that can differentiate it from other Motor Neurone disorders. The diagnosis of typical or so called "sporadic" ALS requires the presence of upper motor neuron signs (spasticity, rigidity, abnormal reflexes), lower motor neuron signs (weakness, atrophy) and progression. The pattern of upper and lower motor neuron signs that a neurologist detects are usually found in certain patterns commonly spread throughout several regions of the body. EMG and nerve conduction studies are helpful in identifying lower motor neuron problems in areas where there may not be much weakness. There are a large number of other illnesses that share some or many features of ALS and they must be evaluated or ruled out before a definite diagnosis can be made. An experienced practitioner who is familiar with the many presentations of ALS can make an accurate diagnosis with appropriate diagnostic testing and time to ensure that "look-alike" diseases have been excluded OTHER MOTOR NEURON DISEASES Primary Lateral Sclerosis This motor neuron disease is similar to ALS but only the upper motor neurons are degenerating. Although rare, some lower motor neurons may appear to be involved with mild atrophy. PLS patients have most problems with spasticity and stiffness. The disease can progress slowly over many years. Patients often respond well to medical therapy to reduce their spasticity and stiffness.
Portal Toolkit Invalid Site URL hallervordenspatz syndrome and brain iron metabolism. Homozygosity mappingof hallervorden-spatz syndrome to chromosome 20p12.3-p13. http://ppv.ovid.com/pt/re/obes/fulltext.00000132-200103000-00011.htm
Hallerevorden-Spatz Syndrome Provides emotional support to families affected by Hallervorden Spatz by hallervorden-spatz syndrome, a rare, progressive neurological disorder, 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.
Journal Of Neurosurgical Anesthesiology - UserLogin Homozygosity mapping of hallervordenspatz syndrome to chromosome 20 (letter) . hallervorden-spatz syndrome clinical and magnetic resonance imaging http://www.jnsa.com/pt/re/jneurosurganes/fulltext.00008506-200004000-00006.htm
Extractions: Hallervorden-Spatz disease is a rare, inherited, neurological movement disorder characterized by progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include slow writhing, distorting muscle contractions of the limbs, face, or trunk, choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Other less common symptoms may include painful muscle spasms, dysphasia (difficulty speaking), mental retardation, facial grimacing, dysarthria (poorly articulated speech), and visual impairment.
Other Brain Conditions hallervordenspatz syndrome (HSS) is a rare, inherited, neurological movementdisorder characterized by the progressive degeneration of the nervous system http://www.nervecentre.org.uk/Other Conditions.htm
Extractions: Supporting people in Caithness and North Sutherland affected by neurological disorders www.nervecentre.org.uk Other Neurological Conditions up Brachial plexus injury Lambert-Eaton syndrome Brain tumour, haemorrhage and AVM Mal De Debarquement syndrome (MDDS) Benign essential tremor Migraine Cluster headaches Neuromuscular conditions ... Tuberous Sclerosis Full (?) List of Neurological conditions The US National Institute for Neurological Disorders and Stroke has a fairly comprehensive listing of neurological conditions from which you can find out more on each one. Click here to find the page you need to start your search. Brachial Plexus injury Brain Tumour, Haemorrhage and AVM (arterio venous malformations) Brain Tumour Action is an organisation set up to support and help people diagnosed with brain tumours, in direct and useful ways such as through their Befrienders scheme. The site has a lot of information on brain tumours and statistics on their incidence in the population. This site is well worth a visit if you have been diagnosed and need somewhere to turn to for help.
BAHA B hallervordenspatz syndrome is a group of rare and severe disorders marked by These data suggest that hallervorden-spatz syndrome pathogenesis is not http://www.necker.fr/irnem/Unites 2001/01radioped.htm
Extractions: Intestinal occlusion occurs in approximately 1 in 3000 births. Its diagnosis can be made in utero with ultrasound however, determination of its precise location is difficult to achieve. We report herein the feasibility of diagnosing and locating a fetal small-intestine occlusion with the use of magnetic resonance imaging. [References: 5] BRUNELLE F.
Current Opinion In Neurology - UserLogin This disorder later came to be known as the hallervordenspatz syndrome (HSS) . 11 Dooling EC, Schoene WC, Richardson EP Jr. Hallervorden Spatz Syndrome. http://www.co-neurology.com/pt/re/coneuro/fulltext.00019052-200408000-00008.htm
Extractions: FORUM Length: 460 aa , molecular weight: 50581 Da , CRC64 checksum: MGGLLGRQRL LLRMGGGRLG APMERHGRAS ATSVSSAGEQ AAGDPEGRRQ EPLRRRASSA 60 SVPAVGASAE GTRRDRLGSY SGPTSVSRQR VESLRKKRPL FPWFGLDIGG TLVKLVYFEP 120 KDITAEEEEE EVESLKSIRK YLTSNVAYGS TGIRDVHLEL KDLTLCGRKG NLHFIRFPTH 180 DMPAFIQMGR DKNFSSLHTV FCATGGGAYK FEQDFLTIGD LQLCKLDELD CLIKGILYID 240 SVGFNGRSQC YYFENPADSE KCQKLPFDLK NPYPLLLVNI GSGVSILAVY SKDNYKRVTG 300 TSLGGGTFFG LCCLLTGCTT FEEALEMASR GDSTKVDKLV RDIYGGDYER FGLPGWAVAS 360 SFGNMMSKEK REAVSKEDLA RATLITITNN IGSIARMCAL NENINQVVFV GNFLRINTIA 420 MRLLAYALDY WSKGQLKALF SEHEGYFGAV GALLELLKIP 460 // UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data LocusLink Information Locus Link Summary This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing has been observed at this locus, including the use of 4 alternate first exons. Six transcript variants have been identified, encoding four distinct isoforms.
Extractions: UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data LocusLink Information Locus Link Summary This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing has been observed at this locus, including the use of 4 alternate first exons. Six transcript variants have been identified, encoding four distinct isoforms. Annotations Gene Ontologies Ontology Annotation Evidence Source Molecular Function ATP binding IEA GOA/IPI
BCMA > BC Medical Journal > Issues > BCMJ April 2001 Edition Dooling E, Schoene W, Richardson E. hallervordenspatz syndrome. Arch Neurol1974;3070-83.PubMed Abstract. 3. Hansen L, Salmon D, Galasko D. The Lewy http://www.bcma.org/public/bc_medical_journal/BCMJ/2001/april_2001/PDSyndrome.as
Extractions: BC Medical Journal Volume 43, Number 3, April 2001, 129-132 Parkinsons disease: A syndrome not a disease Accumulating evidence indicates that what we call Parkinsons disease is not a disease for which we can expect to find a specific cause. Donald B. Calne, DM Dr Calne is the director of the Neurodegenerative Disorders Centre at Vancouver Hospital and Health Sciences Centre, University of British Columbia. Abstract Contents Definition Definition As we learn more about Parkinsons disease and the other two common neurodegenerative disorders, Alzheimers disease and amyotrophic lateral sclerosis, the same pattern of information emerges. It seems that these are not three distinct diseases, but rather they are three syndromes. By syndrome we may infer a collection of symptoms and signs that "run together," for which there may be many different causes. Thus the entities Parkinsons disease, Alzheimers disease, and amyotrophic lateral sclerosis are comparable to such terms as meningitis, stroke, and peripheral neuropathy. As we uncover specific etiologies, we begin to catch a glimpse of variation in the clinical picture that tends to be associated with a particular etiology, and also a particular pathology. For example, patients with a family history of Parkinsons disease tend to develop symptoms at a younger age than those who do not have a family history.
NeuroReport - UserLogin as well as of LBlike inclusions in hallervorden-spatz syndrome 6,7. in the brain of patients with hallervorden-spatz syndrome 7. http://www.neuroreport.com/pt/re/neuroreport/fulltext.00001756-200310060-00005.h
Topic And Category Listing hallervordenspatz syndrome. hallervorden-spatz syndrome High PressureNeurological Syndrome. High Pressure Neurological Syndrome http://search.dartmouth-hitchcock.org/dhmc/servlet/submit?Pg=Topic&Tp=H&visit=1
Directory Of Open Access Journals Abstract, hallervordenspatz syndrome is a rare autosomal recessive hereditarycondition characterized by early onset of progressive movement alteration http://www.doaj.org/abstract?id=115355&toc=y
