61. Übersicht über Die Im Jahr 2000 Erschienenen Literaturarbeiten Zur Spastischen Translate this page 5. hereditary spastic paraplegia caused by mutations in the SPG4 gene.Burger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff http://www.fsp-info.de/jahrb00.htm

Literaturarbeiten zur spastischen Spinalparalyse Zusammenfassung Neue Mutationen im Spastin Gen Mehrere internationale Arbeitsgruppen konnten bei der Analyse der Familien, die in den letzten Jahren untersucht wurden, eine Vielzahl an unterschiedlichen Spastin - Mutationen nachweisen. Dabei fanden sich ca. 30% Spleißmutationen, auch Punktmutationen, Insertionen und Deletionen mit vorzeitigen Stoppcodons wurden beschrieben. Die Mutationen verteilten sich über das ganze Gen, mit Schwerpunkt an den Sequenzen der AAA Kassette bzw. den Walker Motiven A und B, ein Hot – Spot ließ ich jedoch nicht nachweisen. Derzeit wird überwiegend diskutiert, dass sich die Krankheit über eine verminderte intrazelluläre Spastin - Konzentration manifestiert (sog. "Haploinsuffizienz"), und nicht über eine pathogene Funktion des durch die Mutation fehlerhaft produzierten Proteins ("gain of function"). Ein sicherer Nachweis über die pathophysiologischen Zusammenhänge ist bislang nicht gelungen (2-5, 7). Neue klinische Aspekte Einen vergleichbaren Befund berichteten White et al. (9) von einer SPG 4 positiven Familie, in der dementielle Prozesse beschrieben waren, hier zeigte sich autoptisch eine Anreicherung von TAU – Filamenten, wie sie auch bei anderen Demenzen bekannt ist, hier jedoch in einem spezifischen Verteilungsmuster.

62. Orthoguide.com Hereditary Spastic ParaplegiaNeuromuscular Home Page E Toxin Axon Search results for hereditary spastic paraplegia . Orthoguide Matches1 1 of 1 Disorders Neuromuscular Neuromuscular Home Page http://www.orthoguide.com/ortho/Hereditary_Spastic_Paraplegia.php3

Search results for "Hereditary Spastic Paraplegia" Orthoguide Matches 1 - 1 of 1 Disorders: Neuromuscular: Neuromuscular Home Page [http://www.neuro.wustl.edu/neuromuscular/] Search AltaVista for more on 'Hereditary Spastic Paraplegia' Global Search Add Url Free Medline ... Search Enter Keywords to Search and Your Choice of Search Arguments Or And Match entire phrase Orthoguide.com

63. Francesca Ciccarelli HomePage Publications The identification of a conserved domain in both spartinand spastin, genes mutated in hereditary spastic paraplegia. http://www.bork.embl-heidelberg.de/~ciccarel/

Francesca D. Ciccarelli Address: EMBL, Bork Group Meyerhofstr. 1 69012 Heidelberg, Germany Tel: +49 6221 387 456 Fax: +49 6221 387 517 email: ciccarel@embl-heidelberg.de Supplementary Material to Published Papers Publications: The identification of a conserved domain in both spartin and spastin, genes mutated in hereditary spastic paraplegia. Ciccarelli FD , Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH. Multiple sequence alignment has revealed the presence of a sequence domain of ~80 amino acids in two genes, spartin and spastin, mutated in hereditary spastic paraplegia. The domain, which corresponds to a slightly extended version of the recently described ESP domain of unknown function, was also identified in VPS4, SKD1, RPK118 and SNX15, all of which have a well established and consistent role in endosomal trafficking. Recent functional information indicates that spastin is likely to be involved in microtubule interaction. With this new information relating to its likely function, we propose the alternative name 'MIT' (contained within microtubule-interacting and trafficking molecules) for the domain and predict endosomal trafficking as the principle functionality of all molecules in which it is present. Genomics, in press.

64. MRC Geneservice A Locus for Autosomal Dominant Pure hereditary spastic paraplegia Maps toChromosome 19q13. Am. J. Hum. Genet. Volume 66, Number 2 February 2000. http://www.hgmp.mrc.ac.uk/geneservice/DNAservices/microsatellite_references.shtm

HGMP Home Research MRC geneservice Bioinformatics ... Future Microsatellite genotyping service - publications A.M.Dearlove. High throughput genotyping technologies. Briefings in Functional Genomics and Proteomics vol.1, no.2, 139-150, July 2002 A.L.King, S.J.Moodie, J.S.Fraser, D.Curtis, E.Reid, A.M.Dearlove, H.J.Ellis, P.J. Ciclitira. CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families. J.Med.Genet. 39(1):51-54, Jan 2002. Tom Vulliamy, Anna Marrone, Frederick Goldman, Andrew Dearlove, Monica Bessler, Philip J. Mason, Inderjeet Dokal. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413, 432-435, 27 September 2001. A. L. King, J.S. Fraser, S. J. Moodie, D. Curtis, A. M. Dearlove, H. J. Ellis , S. Rosen-Bronson , P. J. Ciclitira. Coeliac disease: follow-up linkage study provides further support for existence of a susceptibility locus on chromosome 11p11. Ann. Hum. Gen. 65(4), 377-386, 2001. A.L. King, J.Y. Yiannakou, P.M. Brett, D. Curtis, M.-A. Morris, A.M. Dearlove, M. Rhodes, S.R. Rosen-Bronson, C. Mathew, H.J. Ellis, and P.J. Ciclitira. A genome-wide family-based linkage study of coeliac disease. Ann. Hum. Genet., 64.479-490, 2000.

65. Generations: The First International Symposium For HSP for hereditary spastic paraplegia. by. Table 1. Dr. John Fink's Hereditary SpasticParaplegia Functional Rating Scale. Disability level. Gait impairment. http://www.ataxia.org/generations/2000fall/hspnance.htm

The First International Symposium for Hereditary Spastic Paraplegia by Martha Nance, MD Minneapolis, MN Over a hundred scientists, professionals, and family members converged from all over the world in Ann Arbor, Michigan May 25-27, 2000 for the First International Symposium for Hereditary Spastic Paraplegia. The symposium was beautifully conceived, executed, and chaired by Dr. John K. Fink, Associate Professor of Neurology at the University of Michigan, with able assistance from Sharon Neumann, Chairman of the Michigan chapter of the National Organization for Rare Disorders (NORD), and a host of volunteers. The symposium left professionals, affected individuals, and families alike with the realization that great strides have been and are being made in our understanding of this group of disorders. The main excitement at the conference, besides the large amount of food which appeared at frequent intervals, came during the scientific sessions, which were held from 8:30-5:30 on all three days. Writing committees met in the evenings to review each day's proceedings and to (try to) reach agreement about areas of controversy. Scientific presenters came to the meeting from the US, Portugal, France, Germany, Ireland, England, Italy, Canada, Australia, and Turkey; agreeing on what language to argue in was at times the most difficult issue to resolve! A number of tests should be performed in an individual suspected to have HSP, unless the diagnosis is very obvious because of the family history. MRI of the cervical, thoracic, and lumbar spine rules out lesions in and around the spinal cord, and if analyzed carefully, may suggest one or another genetic form of HSP. EMG rules out the possibility of a motor neuron disorder and can determine whether peripheral nerve problems are present. Blood or spinal fluid tests to rule out vitamin deficiencies, chronic infections of the spinal cord, or degenerative disorders such as adrenomyeloneuropathy, are useful in many patients.

66. Genome Meeting 2002 Mutation analysis of the spastin gene (SPG4) in patients with autosomaldominant hereditary spastic paraplegia in Germany. Hereditary http://www.dhgp.de/info/archiv/meeting02/poster/postermm03.html

Mutation analysis of the spastin gene (SPG4) in patients with autosomal dominant hereditary spastic paraplegia in Germany Institute of Human Genetics

67. Show Publications For Selected Project Investigation of the molecular basis of hereditary spastic paraplegia.Mutation analysis of the spastin gene in patients with hereditary http://medical.faculty.ncl.ac.uk/biomed/sbg/Publications/HomePages/ShowProjectPu

68. Hereditary Spastic Paraplegia Websites From Linkspider.org The Best Results for hereditary spastic paraplegia from the Linkspider Organization.Click here for hereditary spastic paraplegia listings. http://www.linkspider.org/index.cgi/Health/Conditions_and_Diseases/Genetic_Disor

Hereditary Spastic Paraplegia Directory Results from Linkspider.Org Keyword: Hereditary Spastic Paraplegia Linkspider UK Directory Tree: Entire Directory Add URL Advertise Here! My Linkspider Amazon ... Weather Sub Categories Health Directory Results - Commercial Paid Listings Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

69. Strümpell-Lorrain Disease (www.whonamedit.com) paraplegia, familial spastic paraparesis, French settlement dsease, hereditaryspastic paraparesis, hereditary spastic paraplegia, paraplégie spasmodique http://www.whonamedit.com/synd.cfm/1759.html

Home List categories Eponyms A-Z Biographies by country ... Contact Strümpell-Lorrain disease Also known as: Strümpell's familial paraplegia Strümpell-Lorrain type Strümpell-Lorrain familial spasmodic paraplegia Synonyms: Facial spastic paraplegia, familial spastic paraplegia, familial spastic paraparesis, French settlement dsease, hereditary spastic paraparesis, hereditary spastic paraplegia, paraplégie spasmodique familiale (French), spasmodic infantile paraplegia, spastic congenital paraplegia, spastic familial paraplegia, spastic familial paralysis, spastic infantile paralysis, spastic spinal familial paralysis Associated persons: Maurice Lorrain Ernst Adolf Gustav Gottfried von Strümpell Description: A familial form of paraplegia characterized by spasticity – hypertonicity and weakness - limited mainly to the lower extremities. This is followed by involvement of upper limbs, dysarthria, and dysphagia. Degeneration of the pyramidal tract of the spinal cord and of the columns of Goll is the principal histological feature. Ocular complications may include strabismus, pupillary defects, macular degeneration, and optic atrophy. Occurs in either sex, but is more common in young males. This is a very rare disease, with a frequency of about 1 in 30.000 persons. It is most common in Nordic countries. Inheritance is autosomal recessive (usually), or sex-linked. Bibliography: A. G. G. von Strümpell:

70. Français / Familial or Hereditary and Spastic or Spasmodic, it’s international name is FamilialSpastic Paraplegia or hereditary spastic paraplegia (paraparesis) it http://assoc.wanadoo.fr/asl.spastic/anglasl/englindx.htm

in progress Hereditary Spastic Paraplegia is the degeneration of the spinal cord which is visible through walking problems which slowly develop to paralysis of the legs. You will find a brief presentation in the brochure ( la brochure , a more detailed one in the technical sheet ( la fiche technique ) a page on the main symptoms ( ,) and another with a glossary ( glossaire of technical and scientific terms. Medical Information le conseil scientifique de l'A.SL la recherche The Association qu'est-ce que l'A.SL ? aspect social vivre avec trucs et astuces Publications and current projects brochure fiche technique revue trimestrielle film ... LAST CONGRESS brochure / technical sheet / quarterly newsletter / film / forum / special editions / medical and association projects The environment SCD EURO equivalent foreign sites / SCD Euro / interesting links / Contacts Write to the Chairman Jacques Miller / write to the Webmaster Philippe Grammont Dr TALLAKSEN Tel. : 33 (0) 142162182 Any comment about these pages will be welcome.

71. Accbroft Translate this page Chiamata hereditary spastic paraplegia in America, Familial Spastic Paraplegia inInghilterra e Spinal Paralyse in Germania, questa malatia é da poco l'ogetto http://assoc.wanadoo.fr/asl.spastic/itasl/accbroft.htm

EN CONSTRUCTION page d'accueil 1)Pagina d'accoglio L'eta del inizio, la gravita e l'evoluzione sonno variabile e imprevisibile. Puo presentare complicazione, urinale, cerebelose (equilibro, voce). I bracci non sonno generalmente toccati, oltre complicazioni diversi alquale si agiunge la fatigabilita o la depressione. La malatia puo rimanere spesso senza dare troppi disturbi e non tocca in niente la speranza di vita. (La brochure) 2)Informazione La malatia di S-L in qualche linee (Pagina 1) Il telefono-fax : +33 3 81 83 52 40 E una affezione degenerativa del midolo spinoso, hereditaria, che si manifesta da : .Un torbido per caminare che puo evoluare alla paralisia delle gambe. Rarissima, questa patologia ha una frequenza estimata tra 2 a 10 /100 000 in Francia. Ce ne sonno vari tipi Diversi modi di trasmissione genetica .Il modo di trasmissione puo essere autosomico recessivo : espressione della malatia dai nonni ai fliglioli, i genirori sonno portori sanni. Questo caso risulta spesso di un matrimonio co-sanguigno. .Solo qualche famiglie sonno legati al cromosomo X, dove soltanto i maschi sonno malati.

72. Hereditary Spastic Paraplegias Familial spastic paraplegia; StrümpellLorrain syndrome. Definition Hereditaryspastic paraplegia (HSP) is a clinically and genetically heterogeneous group of http://orphanet.infobiogen.fr/data/patho/GB/uk-HSP.html

Hereditary Spastic Paraplegias Authors: Doctors Enza Maria Valente and Marco Seri Scientific Editor: Doctor Franco Taroni Creation date: January 2003 Disease name and synonyms Hereditary spastic paraparesis Hereditary spastic paraplegia Familial spastic paraplegia Definition Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of disorders characterized by slowly progressive spasticity and weakness of lower limbs, due to a progressive axonal degeneration mainly evident at the distal ends of the corticospinal tracts. Mild loss of the distal ends of the dorsal column fibers and of anterior horn cells may occur. Clinically, HSPs can be divided into two main groups: "pure" and "complex", also referred to as "uncomplicated" and "complicated" forms, respectively. Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense, and, occasionally, of joint position sensation. Pes cavus is sometimes present, and scoliosis may develop in some cases. Pure HSP can be highly disabling but does not shorten life-span. In complex HSPs, this clinical picture is associated with other neurological or non-neurological signs and symptoms, such as seizures, dementia, deafness, amyotrophy, extrapyramidal signs, peripheral neuropathy, in the absence of other co-existing diseases (Bundey 1992; Harding 1993; Reid 1997). Classification Genetically, HSPs are divided by mode of inheritance (autosomal dominant, autosomal recessive and X-linked) and sub-divided by chromosomal locus or causative gene (if already identified). All genetically defined HSPs are assigned the symbol “SPG” (spastic gait) followed by a progressive number. Twenty SPG symbols have been assigned so far, each one identifying a different locus/gene. Considering both clinical and genetic classifications, five HSP groups are defined: autosomal dominant pure (SPG3; SPG4; SPG6; SPG8; SPG10; SPG12; SPG13; SPG19), autosomal dominant complex (SPG9; SPG17), autosomal recessive pure (SPG5; SPG11), autosomal recessive complex (SPG14; SPG15; SPG20) and X-linked complex (SPG1/L1CAM; SPG2/PLP1; SPG16). SPG7, due to mutations in the “

73. Neurophysiological Findings In Patients With Autosomal Dominant Pure Spastic Par proposed that dysfunction of the corticospinal pathways play a major pathogenicrole for the spasticity in patients with pure hereditary spastic paraplegia. http://www.formonline.se/nd/abstracts/abstr60.html

Neuroscience Day Lund University 20-21 May 1999 Neurophysiological findings in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24 Field: Disorders of the nervous system Authors: Nielsen, Jørgen E. Jennum, Poul Sørensen, Sven Asger Fuglsang-Frederiksen, Anders Address of presenting author: Section of Neurogenetics, Department of Medical Biochemistry and Genetics, The Panum Institute, Blegdamsvej 3, DK-2200 Copenhaggen, Denmark E-mail: jnielsen@medgen.imbg.ku.dk Phone: Fax: Text of abstract: Objectives- Earlier studies have proposed that dysfunction of the cortico-spinal pathways play a major pathogenic role for the spasticity in patients with pure hereditary spastic paraplegia. Methods- We studied intracortical inhibition and facilitation, the motor cortico-spinal pathways with paired transcranial magnetic stimulation in upper and lower extremity muscles, reciprocal inhibition of the H-reflex and the peripheral nervous system (motor and sensory nerve conduction, electromyography) in twelve patients with autosomal dominant pure spastic paraplegia (ADPSP) linked to chromosome 2p21-p24. The results were compared to sixteen normal controls. Results- In the patients the intracortical facilitation was increased, but there were no changes in intracortical inhibition. The central conduction time to upper and lower limbs was normal. The patients presented lack of reciprocal inhibition of the H-reflex. No neurophysiological evidence of abnormalities in the peripheral motor and sensory nervous system was identified.

74. Spastic Paraparesis Automotive. Business/Fin. Comp./Tech. Health/Fitness. Home/Family. Informationabout hereditary spastic paraplegia (Familial Spastic Paraparesis), and http://www.drummerstuff.com/snake-year.htm

75. Keywords Spatz Disease Head Injury Headache Hemifacial Spasm Hereditary Motor and SensoryNeuropathy hereditary spastic paraplegia Holoprosencephaly Huntington's http://www.ion.ucl.ac.uk/library/patient/keywords.html

A B C D ... P Q R S T U ... W X Y Z General A Acoustic Neuroma Adrenolukodystrophy (see leukodystrophy Agnosia Aicardi Syndrome AIDS Alexanders Disease (see leukodystrophy Alper's Disease Alzheimer's Disease Amyotrophic Lateral Sclerosis ... Autism B Behcet's Disease Batten Disease Bell's Palsy Binswanger's Disease ... Brown-Sequard Syndrome C Canavan Disease Carpal Tunnel Syndrome Cancer Cauda Equina ... Cerebral Aneurysm Cerebral Arteriosclerosis (see stroke Cerebral Atrophy Cerebral Palsy Charcot-Marie-Tooth Disease ... Continence problems Corticobasal degeneration Craniosynotosis Creutzfeldt-Jacob Disease Cushing's Syndrome D Dandy Walker Syndrome Deafness Dementia (see also Alzheimer's disease and CJD) DeMorsiers Syndrome Depression Dermatomyositis Devic's Syndrome Diabetic Neuropathy ... Dystonia E Ehlers Danlos Syndrome Encephalitis Encephalomyelitis E pendymoma ... Epilepsy Erectile dysfunction Erythromelalgia F Fabry's Disease Facial paralysis Fahr's Syndrome Familial Spastic Paraplegia Fecal Incontinence Fibromyalgia ... Friedrich's ataxia G Gaucher's Disease Gerstmann's Syndrome Gilles de la Tourette (see Tourette) Gliomas Glossopharyngeal Neuralgia Guillain Barre Syndrome H Haemangioblastoma Hallervorden-Spatz Disease Head Injury Headache ... Hemifacial Spasm Hereditary Motor and Sensory Neuropathy Hereditary Spastic Paraplegia Holoprosencephaly Huntington's Disease Hydrocephalus ... Hypotonia and Hypertonia I Inclusion Body Myositis Incontinence Intracranial Aneurysm Isaac's Syndrome J Joubert Syndrome K Kearns-Sayre Syndrome Kennedy's Disease Kleine-Levin Syndrome Klippel-Feil Syndrome Klippel-Trenaunay-Weber Syndrome Kluver-Bucy Syndrome ... Kuru L

76. Health Conditions And Diseases Genetic Disorders Hereditary Health Conditions and Diseases Genetic Disorders hereditary spastic paraplegia.Search Top Health Conditions_and_Diseases Genetic_Disorders http://www.thevgp.com/index.php/Health/Conditions_and_Diseases/Genetic_Disorders

77. Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disordershereditary spastic paraplegia GeneClinicsAn Overview In depth details about hereditary spastic paraplegia. http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Hereditary_

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Hereditary Spastic Paraplegia Conditions and Diseases:Genetic Disorders:Hereditary Spastic Paraplegia GeneClinics: An Overview In depth details about hereditary spastic paraplegia. Includes a summary, definition, categories, diagnosis, genetic counseling and resources. geneclinics.org/profiles/hsp/ Hereditary Spastic Paraplegia HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke. ninds.nih.gov/health_and_medical/disord... Hereditary Spastic Paraplegia In depth look at this disease by John K. Fink, M.D., including genetic analysis, clinical features and FAQs. med.umich.edu/hsp/ HSPinfo.org Information about hereditary spastic paraplegia, and disability resources. Includes newsletters, news, announcements, research and support. hspinfo.org/ MCW Healthlink: HSP An article about hereditary spastic paraplegia, also called familial spastic paralysis. healthlink.mcw.edu/article/921730935.html The FSP Support Group For people suffering from Familial Spastic Paraplegia. Includes a newsletter, discussion forum, links, and contact details. fspgroup.org

78. Ftp.rootsweb.com/pub/usgenweb/la/livingst/vitals/fsd.txt The disease is one of a group of disorders known collectively by themedical name, hereditary spastic paraplegia. Understand each http://ftp.rootsweb.com/pub/usgenweb/la/livingst/vitals/fsd.txt

79. Volume 26 January - December 1903 hereditary spastic paraplegia. Its relation to Friedreich's disease and its claimto be considered as a clinical entity. H . Campbell Thomson. Pages 412 423. http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_26/Issue_03/260412.sgm.

Volume 26: January - December 1903 Issue 3: 1903 Abstract Hereditary spastic paraplegia. Its relation to Friedreich's disease and its claim to be considered as a clinical entity H Campbell Thomson Pages: Part of the OUP Brain WWW service General Information Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

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