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Hereditary Spastic Paraplegia: more detail

The Official Patient's Sourcebook on Hereditary Spastic Paraplegia: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09

Hereditary spastic paraplegia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Chitra, MBBS, MD Venkatasubramanian, 2005

Hereditary spastic paraplegia: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Sandra Galeotti, 2005

On hereditary ataxia and spastic paraplegia (The treasury of human inheritance) by Julia Bell, 1939

lists with details

Hereditary Spastic Paraplegia - General Practice Notebook
hereditary spastic paraplegia. This is a hereditary neurodegenerative disorderwhich in its simple form results in a progressive spastic paraplegia.
http://www.gpnotebook.co.uk/cache/825557023.htm
1Up Health > Hereditary Spastic Paraplegia (HSP), [Familial Spastic Paralysis] -
hereditary spastic paraplegia (HSP), Familial Spastic Paralysis. Read detailed information about hereditary spastic paraplegia
http://www.1uphealth.com/medical/disease/birth-defects-genetic-disease/hereditar

Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory
1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders
Conditions and Diseases Genetic Disorders hereditary spastic paraplegia . GeneClinicsAn Overview In depth details about hereditary spastic paraplegia.
http://www.1uphealth.com/links/genetic-disorders-hereditary-spastic-paraplegia.h
Poster 264 - Autosomal Recessive Hereditary Spastic Paraplegia With Agenesis Of
POSTER NO 264. Autosomal Recessive hereditary spastic paraplegiaWith Agenesis Of Corpus Callosum Further Genetic Heterogeneity.
http://hgm2002.hgu.mrc.ac.uk/Abstracts/Publish/WorkshopPosters/WorkshopPoster07/

Extractions: 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.
Spastic Paraplegia
hereditary spastic paraplegia. Treatment of hereditary spastic paraplegia. HereditarySpastic Paraplegia / Familial Spastic Paraparesis.
http://whenidrink.com/disney-world-orlando-ticket.htm
Hereditary Spastic Paraplegia - Condition, Disease, Or Disorder Article
hereditary spastic paraplegia Article relating to particular medicaldisease, condition, or disorder. hereditary spastic paraplegia.
http://www.stopgettingsick.com/Conditions/condition_template.cfm/2566/303/1

Extractions: Hereditary Spastic Paraplegia What is Hereditary Spastic Paraplegia? Hereditary spastic paraplegia (HSP), also called familial spastic paralysis, refers to a group of genetic disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Symptoms of HSP may occur alone or, in more complicated forms of HSP, may occur in combination with a number of other neurological symptoms. Generally, the primary feature is severe, progressive, lower extremity spasticity. The spasticity sometimes occurs with abnormalities such as optic neuropathy, retinopathy (disease of the retina), dementia, ataxia (lack of muscle control), ichthyosis (a skin disorder causing dry, rough, scaly skin), mental retardation, and deafness. Is there any treatment?
Clinical Study: 01-N-0241, Nuclear Magnetic Spectroscopy For The Evaluation Of P
Title Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis,hereditary spastic paraplegia and Amyotrophic Lateral Sclerosis Number 01
http://clinicalstudies.info.nih.gov/detail/A_2001-N-0241.html

Extractions: Protocol Number: 01-N-0241 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis 01-N-0241 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. National Institute of Neurological Disorders and Stroke (NINDS)
New Tests
hereditary spastic paraplegia (Spastin/SPG4) Evaluation hereditary spastic paraplegia(HSP) is a clinically and genetically diverse group of disorders in which
http://www.athenadiagnostics.com/site/content/testing/new_tests.asp

Extractions: Hereditary spastic paraplegia (HSP) is a clinically and genetically diverse group of disorders in which the predominant symptom is insidiously progressive lower extremity weakness and spasticity. HSP may be categorized as complicated or uncomplicated and Spastin/SPG4 is the most common form of dominantly inherited, uncomplicated HSP, representing approximately 45% of all cases. Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by chronic distal weakness and sensory loss. Symptoms may include bony deformities of the feet, gait disturbance, incoordination, muscle cramping, and scoliosis. Onset frequently occurs at a young age, but is unpredictable and can occur at any age. Mutations in the Periaxin gene on chromosome 19q13 were recently found to cause an autosomal recessive demyelinating form of CMT, designated as CMT Type 4F. In addition, Periaxin mutations were identified as one of the causes of recessive Dejerine-Sottas Neuropathy. Mutation analysis of Periaxin is the most complicated of all CMT-related genes due to its large size, recessive inheritance pattern, and the presence of compound heterozygotes.
The Health Library Nervous System And Brain
Corticobasal DegenerationWe Move. hereditary spastic paraplegia. HereditarySpastic ParaplegiaNINDS. hereditary spastic paraplegiaWe Move.
http://healthlibrary.stanford.edu/resources/internet/bodysystems/nervoussystem2.

Extractions: Diseases and Disorders Use these links to jump directly to your topic of interest: Anatomy Autoimmune Nervous System Diseases Brain Diseases Brain Injury ... Transplantation Nervous System and Brain: Page 1 Page 3 Page 4 Page 5 ... Page 9 Dementias General Information Dementia:MEDLINEplus Forgetfulness:It's Not Always What You Think: National Institute on Aging (NIA) Dementia:Family Caregiver Alliance Mild Cognitive Impairment (NIA Memory Impairment Study):NIA ... Tauopathies: New Discoveries, New Knowledge:NIA Alzheimer's Disease:MEDLINEplus Alzheimer's Disease:National Institute of Mental Health (NIMH) About Alzheimer's Disease:NIA Alzheimer's Disease,Unraveling the Mystery: NIA ... Let's Talk About When Someone You Love Has Alzheimer's Disease:netLibrary [for Kids] Speaking Our Minds : Personal Reflections From Individuals With Alzheimer's:netLibrary Early-Stage Alzheimer's Disease:Family Caregiver Alliance Alzheimer's Disease and Plaques:Society for Neuroscience Interpreting Alzheimer's Abnormalities:Society for Neuroscience ... Early-Onset Familial Alzheimer Disease:GeneReviews, University of Washington See also Senior Health, Alzheimer's Care
Searchalot Directory For Hereditary Spastic Paraplegia
Sponsored Links. Top Health Conditions and Diseases Genetic Disorders HereditarySpastic Paraplegia (6). Related Web Sites.
http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Here

Extractions: Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Hereditary Spastic Paraplegia Related Web Sites HSPinfo.org - Information about hereditary spastic paraplegia, and disability resources. Includes newsletters, news, announcements, research and support.
Hereditary Spastic Paraplegia Organization In UT Advise Car Wash Guys Fundraiser
hereditary spastic paraplegia Organization in UT Advise Car Wash GuysFundraisers. Our fundraiser activities now include Hereditary
http://www.carwashguys.com/0100802_2.shtml

Extractions: 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. 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.
The FSP (Familial Spastic Paraplegia) Group
For people suffering from Familial Spastic Paraplegia. Includes a newsletter, discussion forum, links, Category Health Conditions and Diseases Familial Spastic Paraplegia (FSP) is also known as hereditary spastic paraplegia(HSP), Familial Spastic Paraparesis or StrumpellLorrain Syndrome.
http://www.fspgroup.org/

Extractions: UK Familial Spastic Paraplegia Support Group Home Newsletters Membership Forum ... About Us Familial Spastic Paraplegia (FSP) is also known as Hereditary Spastic Paraplegia (HSP), Familial Spastic Paraparesis or Strumpell-Lorrain Syndrome. The condition is rare and is caused by the inheritance of an abnormal gene from an affected parent. It has been diagnosed where no family history of the condition is known. FSP describes a group of disorders characterised by progressive stiffness (spasticity) of the legs associated with varying degrees of weakness. A number of symptoms are associated with this condition including stiffness and leg cramps which often precede the emergence of a scissoring spastic gait. A quarterly newsletter which updates members on current topics. A national meeting which includes an Annual General Meeting, lectures by FSP specialists and subsequent discussion groups. A help-line which offers advice to new members and those with problems.
The FSP Group November 1997 Newsletter
details on the sheet. Your attention is drawn to a new article by DoctorEvan Reid entitled Pure hereditary spastic paraplegia.
http://www.fspgroup.org/fspnewsnov97.php3

Extractions: UK Familial Spastic Paraplegia Support Group Home Newsletters Membership Forum ... About Us A belated welcome to the Group to all those of you who have joined us in the last few months. In previous years I would have published the names of new members in the Newsletter, but, amazingly, our domestic membership has increased by twenty-five since November last year, and so space dictates that an individual entry in the Newsletter is not practical this time. But increasing membership numbers must never become an end in itself. The prime aim of the group remains mutual support, and with increasing membership comes the hope of new ideas, new sources of information, and, hopefully, new members willing to take an active role in promoting the interests of the Group. Alan and David are the most recent in a sequence of members who have taken it upon themselves to directly fund-raise on behalf of the group. At our July meeting the group discussed what these donations could be best used for. Rather than just absorbing the donations into our current account, it was felt that some more fitting or lasting uses could be found. Suggestions to Sippy Azizollah, please, our fund-raising co-ordinator. Sippy is also looking into the possibility of producing an FSP Christmas Card.... for 1998. Not a charity card as such, but a card that would heighten FSP awareness. If you, or a member of your family, would like to submit a design for consideration, please send your creation to Sippy.
Theses
Evidence of Linkage to Chromosome 14q in Two Irish Families with AutosomalRecessive Kjellin form of hereditary spastic paraplegia.
http://www.ucd.ie/~medicine/pathology/theses.htm

Extractions: List of taught courses 3rd Med 4th Med ... Vacancies Recent postgraduate theses in the Department of Pathology PhD Protein Tyrosine Phosphatases in Melanoma. Protein Tyrosine Phosphatases in Breast Cancer. Loss of Heterozygosity and Epigenetic Alterations of the Imprinted p57KIP2 and H19 Candidate Tumour Suppressor Genes in Human Breast Carcinoma. An Investigation of Chromosome 7 Candidate Imprinted Genes in Human Breast Cancer Expression of Fatty Acid Synthase in Breast Cancer Cells. Comparative Genomic Hybridisation ofDuctal Carcinoma in Situ and invasive breast cancer. Analysis of Imprinted Genes in Human Breast Tissue. Masters (MSc and M Med Sci) Angiogenesis and CD105 staining in Breast Cancer The Imprinting Status of IGF2 and IGF2R in Human Breast Tissue. Expression Analysis and Methylation Studies of MAS, a Candidate Imprinted Gene on Chromosome 6q. Loss of Heterozygosity and Loss of Imprinting of H19, IGF2 and p57KIP2 in Transitional Cell Carcinoma of the Bladder. Immunostaining and DNA Analysis of the Wilms' Tumour (WT1) Suppressor Gene in Ductal Carcinoma in situ (DCIS) of the Breast.
Dr
Molecular genetics of hereditary spastic paraplegia. This is a collaborativeproject with Dr Michael Hutchinson, St Vincents Hospital
http://www.ucd.ie/conway/html/cvs/byrne.htm

Extractions: Dr. Paula Byrne Faculty: Medicine Department: Pathology Conway Centr e Dublin Molecular Medicine Centre Conway Biomedical Area: Cancer/ Neuroscience Email: paula.byrne@ucd.ie Research Career, Achievements and Honours: PhD School of Biological Sciences, University of Surrey Post-doctoral Research Fellow, Institute of Cancer Research, Sutton Special Lecturer, Dept of Pathology, University College Dublin 1997- present College Lecturer, Dept of Pathology, University College Dublin European Society of Human Genetics Young Scientist award at 29 th Annual Meeting (Italy) Recent Selected Publications Neurology (2001) 56:1230-33 CA Hughes, PC Byrne , S Webb, P McMonagle, V Patterson, M. Hutchinson and NA Parfrey. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology (2000) 54: 1510-1517 PC Byrne P Mc Monagle, S Webb, B Fitzgerald, NA Parfrey and M Hutchinson. Age related cognitive decline in Hereditary Spastic Paraparesis linked to chromosome 2p. Human Molecular Genetics (2000) 9:637-44 N Fonknechten, D Mavel
The Contact A Family Directory - FAMILIAL SPASTIC PARAPLEGIA
Familial Spastic Paraplegia; hereditary spastic paraplegia; StrumpellDisease. Familial Spastic Paraplegia (FSP) describes a group
http://www.cafamily.org.uk/Direct/f21.html

Extractions: printer friendly FAMILIAL SPASTIC PARAPLEGIA home more about us in your area conditions information ... how you can help search this site Familial Spastic Paraplegia; Hereditary Spastic Paraplegia; Strumpell Disease Familial Spastic Paraplegia (FSP) describes a group of largely progressive conditions predominantly affecting the legs. As the name suggests there are three main features: the legs become stiff (spasticity); there is a variable amount of weakness (paraplegia) and there is a strong genetic element. It is now clear there are a large number of conditions that fall under this grouping and progress has been made in identifying the genetic factors behind some of the more common forms. However, it may be some time before all the genes responsible are found and even longer before the exact molecular and cellular processes that give rise to FSP are understood. It is hoped that further research it will be possible to produce disease modifying and curative treatments. At a clinical level there are 2 forms of this condition: pure and complicated. The pure form is not associated with additional features, whereas the complicated form is clinically very variable with many different additional features. The pure form is far commoner then the complicated variety. However, it is now established that the situation at a genetic level is even more complicated with several different genes proving responsible for the pure form of FSP.
Welcome To NNI - Outpatient Services
Molecular and cellular mechanisms in movement disorders like dystonia,Parkinson syndrome and hereditary spastic paraplegia, Study
http://www.nni.com.sg/research_BURGUNDER.htm

Extractions: Singapore 308433 Tel: (65) 6357-7639 Fax: (65) 6256-9178 Email : burgunder@ttsh.com.sg RESEARCH AREAS Clinical and molecular correlation in hereditary genetic disorders with comparative studies between Asian and European populations Molecular and cellular mechanisms in movement disorders like dystonia, Parkinson syndrome and hereditary spastic paraplegia Study of the dystrophin-associated protein complex in muscle cell culture, including the search for novel therapies for muscular dystrophies MD (Bern), 1981 Postgraduate training in general medicine in Switzerland Postgraduate training in neurology in Switzerland Guest researcher, Laboratory of Cell Biology, National Institutes of Mental Health, Bethesda, USA FMH Neurology (Switzerland) 1991 PD in Experimental Neurology (Bern) 1994 SSCN Certificate in Clinical Neurophysiology (Switzerland) 1999 Past President, Swiss Society for Neuroscience (-2001)
AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA WITH EARLY ONSET
Pure and complicated forms of hereditary spastic paraplegia presenting in childhood.Dev Med Child Neurol 1991; 33 304312. hereditary spastic paraplegia.
http://med.ege.edu.tr/norolbil/2001/NBD15901.html

Extractions: Journal of Neurological Sciences (Turkish) Table of Contents NOROL BIL D 18: 2 , 2001 http://www.med.ege.edu.tr/norolbil/2001/NBD15901.html Clinical Research Article AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA WITH EARLY ONSET Hatice KARASOY , Ahmet GÖKÇAY , Ayfer ULKU Ege University School of Medicine, Department of Neurology, Pediatric Neurology Unit, Izmir , Turkey ABSTRACT Some clinical and genetic features of 29 patients with FSP are presented. Eighteen patients were male and 11 were female. The age of onset was between 6 months and 14 years of age and within the first 3 years of life in 86 % of the patients. There was family history compatible with autosomal recessive trait in each patient except for one. The main clinical findings were progressive weakness and spasticity of the lower limbs. Mild upper limb involvement was also found in 11 cases. Moreover, 15 patients had mental retardation, 3 had ataxia, 3 had optic atrophy and 3 had epilepsy. Key-words: Familial Spastic Paraplegia, Autosomal Recessive Inheritance, Early Onset. INTRODUCTION Familial spastic paraplegia (FSP) is a hereditary disease with progressive spasticity and weakness which is more prominent in the lower limbs. FSP is degenerative in nature and affects primarily the pyramidal tracts. FSP was first described in detail by Seeligmüller in 1876 and then by Strümpell in 1880. In the following years, new cases displaying additional findings were reported in agreement with the original definition (1,2,4,16,25,31). Many authors have pointed out its uniqueness in the heredo-familial disease classification and its various clinical and genetic forms. FSP has been classified according to genetic transmission, the age of onset and clinical findings. In the literature, X-linked recessive forms are very rare, autosomal dominant transmission is very frequent and autosomal recessive transmission is moderately frequent (2-4,13,19,25 ).
Directory :: Look.com
hereditary spastic paraplegia (6) Sites. GeneClinics An Overview Indepth details about hereditary spastic paraplegia. Includes
http://www.look.com/searchroute/directorysearch.asp?p=521628
FSP:Infos For Researchers
f clinical aspects ) Hedera et al., Am J Hum Genet, 64(2), 1999, 563569 Novellocus for autosomal dominant hereditary spastic paraplegia on chromosome 8q.
http://www.fsp-info.de/engl/infores.htm

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