61. Hereditary Spastic Paraplegia (H) Channel hereditary spastic paraplegia. Main story goes here Hereditary SpasticParaplegia HIV and AIDS Hughes Syndrome Huntingtons Disease http://www.aditus.nhs.uk/Aditus/Patients and Public/A-Z/H/Hereditary Spastic Par

HOME RESOURCES COMMUNITIES HELP ... LEARNING LOG IN TO SEARCH EXTRA RESOURCES AND FOR YOUR PERSONALISED SPACE Use your Athens ID to access bibliographical resources, full text journal and local resources. Register for Athens Forgotten Password Hereditary Spastic Paraplegia Main story goes here... Useful Links Support Groups Events Useful Links There are no useful websites currently defined for this topic. Back to top Documents and Reports There are no Documents or Reports currently defined for this topic. Back to top Journals and Databases There are no Journals or Databases currently defined for this topic. Back to top Support Groups There are no support groups currently defined for this topic. Back to top Events There are no events currently defined for this topic. Back to top Select a Subject A B C D ... Hypertension Aditus is provided by the North West Health Care Libraries Unit Health Care Libraries Unit, Ground Floor, Brew House, Wilderspool Park Greenall's Avenue, Warrington, Cheshire, WA4 6HL

62. ALS Treatment: Amyotrophic Lateral Sclerosis Lou Gehrigs Disease hereditary spastic paraplegia (HSP) is a term used to describe a group of rare, Nonhereditary HSP is referred to as Spastic Paraplegia or Apparently http://www.enhancedlifesciences.com/hspinfo.php

path = "http://www.enhancedlifesciences.com/"; Home About Us Products Disorders ... Cart Hereditary Spastic Paraplegia (HSP) Hereditary Spastic Paraplegia (HSP) is a term used to describe a group of rare, inherited neurological disorders along the motor neuron disease continuum whose primary symptom is progressive spasticity (stiffness) and weakness of the leg and hip muscles. There are at least twenty different types of HSP; however, genetic causes are known for only eleven of them. It is estimated that approximately 20,000 individuals are affected by HSP in the U.S. Other names for this disorder include Familial Spastic Paraparesis (or Paraplegia), Strümpell-Lorrain Disease, Spastic Paraplegia, Hereditary Charcot-Disease, Spastic Spinal Paralysis, Diplegia Spinalis Progressiva, French Settlement Disease, Troyer syndrome and Silver syndrome. In the late 1800's, a neurologist in Heidelberg, Germany named A. Strümpell first described HSP. He observed two brothers and their father, who had gait disorders and spasticity in their legs. After the death of the two brothers, Strümpell was able to show, through autopsy, the degeneration of the nerve fibers leading through the spinal cord. HSP was originally named after Strümpell. HSP is caused by degeneration of the upper motor neurons in the brain and spinal cord. These neurons control voluntary movement; and the cell bodies of these neurons are located in the motor cortex area of the brain. They have long, hair-like processes called axons that travel to the brainstem and down the spinal cord. The axons relay messages to lower motor neurons that are located all along the brainstem and spinal cord. Lower motor neurons then carry the messages out to the muscles. This results in a progressive increase in muscle spasticity and weakness. The upper body may be minimally affected is some cases, resulting in problems with arm or speech and swallowing muscles.

63. SPG20 Is Mutated In Troyer Syndrome, An Hereditary Spastic Paraplegia - Nature G SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Heema Patel,Harold Cross, Christos Proukakis, Ruth Hershberger, Peer Bork, http://www.nature.com/ng/journal/v31/n4/full/ng937.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Brief Communication Nature Genetics is mutated in Troyer syndrome, an hereditary spastic paraplegia Department of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK. Correspondence should be addressed to Andrew H. Crosby acrosby@sghms.ac.uk Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in , encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP. Although a large number of loci have been mapped for HSP, only a few forms of the disease have been attributed to specific genes, and these all have divergent proposed mechanisms of action

64. Hereditary Spastic Paraplegia Organization In UT Advise Car Wash Guys Fundraiser The Car Wash Guys is an environmentally friendly mobile automotive car wash franchise. http://www.carwashguys.com/0100802_2.shtml

Order Car Wash What's New Opportunities History Automotive Links Blitz Team Campaigns Car Wash Kids Car Wash Pets CD ROM Filming Commendations Dealership Division F.A.Q. Fixed Sites Founder's Bio Franchisee Forum Franchisees Franchising 101 Franchising.Org French Fundraisers Fundraising H.Q. Communications In The Media Intl Agreement Local Weather Master Franchisees Monthly Splash Mobile Watch Our Trucks Reclaim Devises Reg D Investor Site Awards Spanish State Tours Suggestions Team Meetings Team Wash Guy The Competition Truck Facility U.S. Victory Tour Video Clips What Was New Hereditary Spastic Paraplegia Organization in UT Advise Car Wash Guys Fundraisers Our fundraiser activities now include Hereditary Spastic Paraplegia, the official organization to help people and their families with this problem have recommended that local chapters do Car Wash Fundraisers as part of their efforts to raise necessary monies. Click here for more There is currently no cure for HSP. However, researchers around the world are moving at a rapid pace to discover all the genes responsible for HSP and to develop effective treatments and cures. Additionally, HSP community volunteers organize meetings, conferences, fundraising events and social gatherings to help others and support researchers in the fight for a cure. Thanks to the on going DNA research there may be a cure soon. Hereditary Spastic Paraplegia is not a single disorder, but a group of inherited degenerative spinal cord disorders characterized by progressive weakness and spasticity of the legs. Symptoms can occur in childhood or at any age throughout adulthood. Initial symptoms include difficulty with balance, weakness and/or stiffness in legs, muscle spasms and dragging the toes. Other symptoms, such as bladder problems, can be associated with HSP.

65. SPF - HSP General Information Information about the disorder known as hereditary spastic paraplegia, providedby the Spastic Paraplegia Foundation (SPF). The SPF is responsible for the http://www.sp-foundation.org/hsp.htm

General information Reviewed by John K. Fink, M.D. , SPF Medical Advisor Index: What is HSP? What is (Apparently Sporadic) Spastic Paraplegia? What are the symptoms? How severe will my symptoms get? ... Where can I get more information? What is HSP? HSP is a term for a group of rare, inherited neurologic disorders along the motor neuron disease continuum. Their primary symptom is progressive spasticity (stiffness) and weakness of the leg and hip muscles. There are at least twenty types of HSP and the genetic causes are known for eleven. The disorder is estimated to affect some 20,000 people in the U.S. There are many different names used for HSP. The most common are Hereditary Spastic Paraplegia (or Paraparesis), Familial Spastic Paraparesis (or Paraplegia) and Strümpell-Lorrain Disease. Others are Spastic Paraplegia, Hereditary Charcot-Disease, Spastic Spinal Paralysis, Diplegia Spinalis Progressiva, French Settlement Disease, Troyer syndrome and Silver syndrome.

66. Clinical Features Of Hereditary Spastic Paraplegia With Thin Keywords hereditary spastic paraplegia · corpus callosum · dementia · magnetic Background hereditary spastic paraplegia is a clinically and genetically http://www.cmj.org/information/full.asp?id=1674

67. Archives Of Iranian Medicine, Volume 6, Number 4, 2003: 296 – 298. Harding divided hereditary spastic paraplegia syndrome into pure and complicated hereditary spastic paraplegia (HSP) presents with a relatively uniform http://www.ams.ac.ir/AIM/0364/015.htm

S PASTIC   P ARAPLEGIA   WITH  P ERIPHERAL P OLYNEUROPATHY: A R EPORT  OF  T HREE  C ASES Saied Khosrawi MD Mostafa  Shirzadi MD, Farshad Ghadiri MD Department of Neurology , Isfahan University of Medical Sciences, Isfahan,Iran Correspondence: S. Khosrawi MD, Department of Neurology, Azzahra Hospital,  Sofeh St., Isfahan, Iran. P.O. Box: 925, Fax: +98-311-6684510, E-mail: khosrawi@med.mui.ac.ir Spastic paraplegia is manifested by progressive spasticity and weakness of the legs and is one of the presenting signs of upper motor neuron disorders. Several diseases present solely with spastic gait disorders, but spastic paraplegia with severe polyneuropathy is an uncommon condition. We report three cases of spastic paraplegia from childhood with severe distal atrophy due to profound polyneuropathy; two of them had a hereditary and one sporadic (nonhereditary) background. In the present report, positive clinical and paraclinical findings with the possible differential diagnosis have been discussed. Archives of Iranian Medicine, Volume 6, Number 4, Keywords hereditary complicated neurophysiology polyneuropathy spastic paraplegia  sporadic                                  Introduction S pastic paraplegia was first reported by Seeligmüller;

68. A Genetic Model For Hereditary Spastic Paraplegia (HSP) Disease hereditary spastic paraplegia (HSP) is a devastating motor disorder that relegatespatients to walkers and, in more severe cases, wheelchairs. http://www.scienceblog.com/community/older/2004/2/20041849.shtml

July 2004 Cell Press A genetic model for hereditary spastic paraplegia (HSP) disease Hereditary spastic paraplegia (HSP) is a devastating motor disorder that relegates patients to walkers and, in more severe cases, wheelchairs. In work reported this week, researchers have taken our understanding of HSP to a new level with the development of an animal model for the disease. The findings suggest that, in many cases, HSP may result from the improper regulation of microtubules, which make up a large part of a nerve cell's scaffolding. This could explain why the specific nerve cells that are preferentially affected in HSP – those that send signals from the brain's cerebral cortex to the motor neurons that initiate muscle contractions – show a progressive dysfunction that culminates in degeneration. Genetic anomalies in more than 20 different genes have been associated with HSP, but mutations in one gene in particular, SPG4, are responsible for more than 40% of all cases. SPG4 encodes a protein called spastin, which previous research has shown to destabilize microtubules, the tiny hollow protein tubes that originate near the nucleus and extend into the long processes of neurons. Through their interactions with other proteins, microtubules essentially represent the dynamic scaffolding of the nerve cell. In neurons, microtubules' responsibilities include carrying cellular components to distant regions of the cell, regulating the growth of neuronal branches, and providing a substrate for important protein interactions. Microtubules grow and shrink, and their stability at a given time and place can be regulated by other proteins to facilitate specific cellular functions.

69. Health/Conditions And Diseases/Genetic Disorders/Hereditary Spastic Paraplegia - hereditary spastic paraplegia In depth look at this disease by John K. Fink, MD, An article about hereditary spastic paraplegia, also called familial http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites The FSP Support Group For people suffering from Familial Spastic Paraplegia. Includes a newsletter, discussion forum, links, and contact details. url: www.fspgroup.org GeneClinics: An Overview In depth details about hereditary spastic paraplegia. Includes a summary, definition, categories, diagnosis, genetic counseling and resources. url: www.geneclinics.org/profiles/hsp/ Hereditary Spastic Paraplegia HSP information sheet compiled by the National Institute of Neurological Disorders and Stroke. url: www.ninds.nih.gov/health_and_medical/disorders/her... Hereditary Spastic Paraplegia In depth look at this disease by John K. Fink, M.D., including genetic analysis, clinical features and FAQs. url: www.med.umich.edu/hsp/

70. The First International Symposium For Hereditary Spastic Paraplegia: National In The First International Symposium for hereditary spastic paraplegia. http://accessible.ninds.nih.gov/news_and_events/proceedings/spastic_paraplegia.h

News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders Funding ... Jobs and Training You are here: Home News and Events Proceedings News and Events section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. News Press Releases News Articles Funding News Events Calendar of Events Proceedings - you are in this section Online Events Congressional Testimony NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page The First International Symposium for Hereditary Spastic Paraplegia Get Web page suited for printing Email this to a friend or colleague The First International Symposium for Hereditary Spastic Paraplegia May 25-27, 2000 University of Michigan, Ann Arbor, Michigan Symposisium Summaries and Articles HSP Symposium Agenda May 25 May 26 ... Participants Symposium Summaries and Articles Summary from hspinfo.org

71. Institute Of Psychiatry (IoP) - Mutations In SPG4 And SPG3a Occur In Autosomal D Background hereditary spastic paraplegia (HSP) is a group of clinically andgenetically heterogeneous neurodegenerative disorders mainly characterised by http://www.iop.kcl.ac.uk/iopweb/departments/home/default.aspx?locator=577

72. The Hereditary Spastic Paraplegia Gene, Spastin, Regulates Microtubule Stability BACKGROUND hereditary spastic paraplegia (HSP) is a devastating neurologicaldisease causing spastic weakness of the lower extremities and eventual axonal http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/10481192.html

The hereditary spastic paraplegia gene, spastin , regulates microtubule stability to modulate synaptic structure and function.BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a devastating neurological disease causing spastic weakness of the lower extremities and eventual axonal degeneration. Over 20 genes have been linked to HSP in humans; however, mutations in one gene, spastin Spastin is a member of the ATPases associated with diverse cellular activities ( AAA ) protein family, and contains a microtubule interacting and organelle transport (MIT) domain. Previous work in cell culture has proposed a role for Spastin in regulating microtubules. RESULTS: Employing Drosophila transgenic methods for overexpression and RNA interference (RNAi), we have investigated the role of Spastin in vivo. We show that Drosophila Spastin D-Spastin ) is enriched in axons and synaptic connections. At neuromuscular junctions (NMJ), Dspastin RNAi causes morphological undergrowth and reduced synaptic area. Moreover

73. %270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A Aagenaes, O. hereditary spastic paraplegia a family with ten injured.Acta Psychiat. Jones, E. Eight cases of hereditary spastic paraplegia. Rev. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:270800] -e

74. Clinical Trial: Nuclear Magnetic Spectroscopy Imaging To Evaluate Primary Latera Condition. Primary Lateral Sclerosis hereditary spastic paraplegia AmyotrophicLateral Sclerosis. MedlinePlus related topics Amyotrophic Lateral Sclerosis; http://www.clinicaltrials.gov/ct/show/NCT00023075

Home Search Browse Resources ... About Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis This study has been completed. Sponsored by: National Institute of Neurological Disorders and Stroke (NINDS) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will use a magnetic resonance imaging technique called nuclear magnetic spectroscopy (H-MRS) to define the pathology and progression of primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis and assess the usefulness of this technique in evaluating patients' response to therapy. H-MRS will be used to examine metabolic changes in the parts of the brain and spinal cord (motor cortex and corticospinal tract) involved in movement. Normal volunteers and patients with primary lateral sclerosis, hereditary spastic paraplegia or amyotrophic lateral sclerosis between 21 and 65 years of age may be eligible for this study. Participants will have up to five H-MRS studies, including baseline and follow-up tests. For this procedure, the subject lies on a stretcher that is moved into a strong magnetic field. Earplugs are worn to muffle the loud knocking noise that occurs during switching of radio frequencies. The subject will be asked to lie still during each scan, for 1 to 8 minutes at a time. Total scanning time varies from 20 minutes to 2 hours, with most examinations lasting between 45 and 90 minutes. Communication with the medical staff is possible at all times during the scan.

75. AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA WITH EARLY ONSET Familial spastic paraplegia (FSP) is a hereditary disease with Pure andcomplicated forms of hereditary spastic paraplegia presenting in childhood. http://med.ege.edu.tr/norolbil/2001/NBD15901.html

76. HighWire Press Citation Map hereditary spastic paraplegia advances in genetic research. Hereditary SpasticParaplegia Working group JK Fink, T HeimanPatterson, T Bird, F Cambi, http://highwire.stanford.edu:4141/cgi/citemap?id=jmedgenet;36/10/797

77. Poster 264 - Autosomal Recessive Hereditary Spastic Paraplegia With Agenesis Of hereditary spastic paraplegia (HSP) is a group of disorders that cause progressivespasticity of the lower limbs and are characterized by clinical and http://hgm2002.hgu.mrc.ac.uk/Abstracts/Publish/WorkshopPosters/WorkshopPoster07/

HGM2002 Poster Abstracts: 7. Medical Genomics POSTER NO: 264 Autosomal Recessive Hereditary Spastic Paraplegia With Agenesis Of Corpus Callosum: Further Genetic Heterogeneity L. Al-Gazali H. Al-Barwany, S. Al-Yahyaee, M. Al-Kindi, A. Guru Raj, L. Sztriha, R. Bayoumi UAE University Faculty of Medicine and Health Sciences Dept. of Paediatrics, P.O. Box 1766, Al Ain, UAE Sultan Qaboos University, Department of Biochemistry, P.O. Box 35, Al Khoud, Muscat, Sultanate of Oman Hereditary spastic paraplegia (HSP) is a group of disorders that cause progressive spasticity of the lower limbs and are characterized by clinical and genetic heterogeneity. Five loci (8p12-q13, 14q, 16q24.3, 3q27-28, 15q13-15) for the autosomal recessive HSP (ARHSP) have been mapped and 2 genes have been identified. Several autosomal recessive HSP families with agenesis of corpus callosum and mental deterioration have been reported in the Japanese population. Most of these families were linked to chromosome 15q 13-12. We report on a large multiply consanguineous Omani family where 6 children in 2 sibships are affected with ARHSP. All presented in first 2 years of life with delayed walking, spasticity which is more pronounced in the lower limbs and developmental delay. There were no other associated abnormalities. Magnetic Resonance Imaging of the brain (MRI) in all showed agenesis/hypoplasia of corpus callosum. Linkage analysis to the known recessive loci 8q, 16q and 15q13-15 were excluded in this family indicating further genetic heterogeneity of the ARHSP with agenesis of corpus callosum.

78. HighWire -- Browse Journals - Hereditary Spastic Paraplegia Browse Journals publishing on hereditary spastic paraplegia, (return to Topic List Alphabet, , Frequency of articles in hereditary spastic paraplegia http://highwire.stanford.edu/lists/topic_dir/602925/602926/602998/603011/603012/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Hereditary Spastic Paraplegia: (return to Topic List page) Hereditary Spastic Paraplegia Sort by: Alphabet Frequency of articles in Hereditary Spastic Paraplegia Focus of journal on Hereditary Spastic Paraplegia What's this? Journals focusing on Hereditary Spastic Paraplegia (in order by highest focus) Brain info free ISSUES Human Molecular Genetics ... Hereditary Motor and Sensory Neuropathies Hereditary Spastic Paraplegia Home Adv. Search For Institutions For Publishers ... partners/suppliers

79. Subclinical Cognitive Impairment In Autosomal Dominant "pure" Hereditary Spastic hereditary spastic paraplegia Spastin Phenotype and Function Arch Neurol, June1, 2004; 61(6) 830 833. Full Text PDF http://jmg.bmjjournals.com/cgi/content/extract/36/10/797

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80. J Med Genet -- Sign In Page The term hereditary spastic paraplegia (HSP) is used to describe a group of SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. http://jmg.bmjjournals.com/cgi/content/full/42/1/80

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH Author Keyword(s) Vol Page [Advanced] Access to this article requires a subscription or payment. Full Text A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26)... Wilkinson et al. J Med Genet. To view this item, select one of the options below: Login via Athens Login for existing subscribers User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgotten your user name or password? Subscribe Buy the article Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$30.00. Regain access to an already purchased article if the access period has not yet expired. 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 this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Wilkinson, P A

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