81. Hereditary "pure" Spastic Paraplegia: A Study Of Nine Families -- Polo Et Al. 56 A novel form of autosomal recessive pure hereditary spastic paraplegia maps to Phenotypic analysis of autosomal dominant hereditary spastic paraplegia http://jnnp.bmjjournals.com/cgi/content/abstract/56/2/175

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Polo, J. M. Articles by Berciano, J. Journal of Neurology, Neurosurgery, and Psychiatry, 1993, Vol 56, 175-181 PAPERS Hereditary "pure" spastic paraplegia: a study of nine families JM Polo, J Calleja, O Combarros and J Berciano University Hospital Marques de Valdecilla, University of Cantabria, Santander, Spain. The genetic and clinical features of 46 patients in nine families with "pure" hereditary spastic paraplegia are described. Inheritance was

82. Hereditary "pure" Spastic Paraplegia: A Clinical And Genetic Study Of 22 Familie In 22 families with the pure form of hereditary spastic paraplegia Two formsof dominant hereditary spastic paraplegia were identified one with an http://jnnp.bmjjournals.com/cgi/content/abstract/44/10/871

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Harding, A. E. Journal of Neurology, Neurosurgery, and Psychiatry, 1981, Vol 44, 871-883 PAPERS Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families AE Harding In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal recessive in three. Examination of intrafamilial correlation of age of onset in the dominant cases suggested that the disorder is genetically heterogeneous. Two forms

83. Login hereditary spastic paraplegia (HSP) is a clinically and genetically (Seereviews by the hereditary spastic paraplegia Working Group Fink et al. http://dx.doi.org/10.1086/302258

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84. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ hereditary spastic paraplegia In depth look at this disease by John K. Fink, MD, hereditary spastic paraplegia - HSP information sheet compiled by the http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Hereditary Spastic Paraplegia Subtopics Search Google: Hereditary Spastic Paraplegia News Books Links ... Scientists Discover Scaramanga Gene's Bond With Breast Cancer (September 7, 2005) full story 'Cookbook Recipes' Would Cure Disease With Nontoxic DNA Delivery Systems (August 29, 2005) full story New Role For Gene That Counteracts Formation Of Tumors (August 29, 2005) full story Researchers Find BRCA1 Tumor Suppression Nullified By Cyclin D1 (August 14, 2005) full story (August 11, 2005) full story Nerve Cells' Power Plants Caught In A Traffic Jam (August 9, 2005) full story Research Casts Doubt On Circulating Stem Cells (August 3, 2005) www.pnas.org , PNAS Early Edition). full story University Of Iowa Researchers Prevent Hereditary Deafness In Mice (July 28, 2005) full story [ More news about Hereditary Spastic Paraplegia by: Icon Health Publications See Larger Image Amazon.com's Price:

85. Hereditary Spastic Paraplegia hereditary spastic paraplegia. Provider Support Kit Directions. Type theappropriate information into the fields below to personalize your copy of the http://www.athenadiagnostics.com/site/content/resources/provider_support_kit/hsp

Hereditary Spastic Paraplegia Provider Support Kit Directions: Type the appropriate information into the fields below to personalize your copy of the letter. Click the Submit button, this will generate your personalized letter. Please review the letter and modify to ensure that it is correct and appropriate for your patient's condition(s). Print a copy of the letter or highlight the text of the letter, copy it and paste it into your own word processing document. View or print the Clinical Overview (at right) to accompany your letter. The PDF download requires Adobe Acrobat Reader version 4.0. download for FREE from www.adobe.com Date: Physician Name: Phone Number: Attn: Insurance Company Pathologist: Insurance Company: Address: City: State: Zip: Re: Patient Name: ID#: Insurance ID#: Dear Doctor: Last Name of Pathologist: Chief Complaint: History: Examination: No patient information entered in these forms is stored in any way by Athena. This form is created simply to facilitate your use of this template. FAQs Request Materials Provider Support Kit Synapse Program ... HIPAA

86. Hereditary Spastic Paraplegia (Spastin/SPG4) Evaluation (OLD) hereditary spastic paraplegia (Spastin/SPG4) Evaluation (OLD) 426 modified andreplaced by Complete hereditary spastic paraplegia Evaluation - 526 http://www.athenadiagnostics.com/site/product_search/test_description_template.a

87. Infantile-onset Ascending Hereditary Spastic Paralysis - Genetics Home Reference hereditary spastic paraplegia; IAHSP; spastic paralysis, infantile onset ascending.See How are genetic conditions and genes named? in the Handbook. http://ghr.nlm.nih.gov/condition=infantileonsetascendinghereditaryspasticparalys

Home What's New Browse Handbook ... Search Infantile-onset ascending hereditary spastic paralysis Related Gene(s) Quick links to this topic MedlinePlus Health Information Patient support For patients and families ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References Infantile-onset ascending hereditary spastic paralysis On this page: What is infantile-onset ascending hereditary spastic paralysis? How common is infantile-onset ascending hereditary spastic paralysis? ... help with understanding infantile-onset ascending hereditary spastic paralysis? What is infantile-onset ascending hereditary spastic paralysis? Infantile-onset ascending hereditary spastic paralysis is a rare disorder characterized by the progressive weakness and stiffness of arm, leg, and facial muscles. Symptoms of infantile-onset ascending hereditary spastic paralysis begin during infancy or early childhood and slowly worsen. The disorder begins with stiffness and weakness of the legs within the first 2 years of life. Patients are usually wheelchair-bound by late childhood or early adolescence. Weakness and stiffness of arm muscles occur by age 7 or 8 years. During late childhood and early adolescence, patients also experience slow eye movements and difficulty with speech and swallowing. Even though this disorder begins early in life, patients live into their 30s. How common is infantile-onset ascending hereditary spastic paralysis?

88. Entrez PubMed SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Patel H,Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

89. Entrez PubMed hereditary spastic paraplegia is a genetically transmitted disease that is usuallyautosomal dominant. Characterized by a slow progression of spastic http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=3

90. Rarelink.net - Diagnoselisten Hereditary Spastic Paraplegia Du er her Hjem Diagnoselisten hereditary spastic paraplegia Spastiskparaparese, hereditær; StrumpellLorrain syndrom, hereditary spastic paraplegia. http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=106

91. Hereditary Spastic Paraplegia SPG13 Is Associated With A Mutation In The Gene En SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently hereditary spastic paraplegia (HSP) represents a clinically and http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=447607

92. A Kinesin Heavy Chain (KIF5A) Mutation In Hereditary Spastic Paraplegia (SPG10) Fink JK (2002) hereditary spastic paraplegia the pace quickens. Annals ofNeurology 51669–672 PubMed Full Text . Goldstein LSB (2001) Kinesin http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=385095

93. Locus–phenotype Correlations In Autosomal Dominant Pure Hereditary Spastic Para Key Words autosomal dominant pure hereditary spastic paraplegia; Intrafamilialvariability in hereditary spastic paraplegia associated with an SPG4 http://brain.oxfordjournals.org/cgi/content/abstract/122/9/1741

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (20) Request Permissions PubMed PubMed Citation Articles by Reid, E. Articles by Rubinsztein, D. C. Brain, Vol. 122, No. 9, 1741-1755, September 1999 Oxford University Press A clinical and molecular genetic study of 28 United Kingdom families E. Reid C. Grayson M. T. Rogers and D. C. Rubinsztein Department of Medical Genetics, University of Cambridge, Cambridge and Institute of Medical Genetics, University of Wales, Cardiff, UK Correspondence to: D. C. Rubinsztein, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2XY, UK E-mail: This study aimed to describe the clinical phenotype of a large collection of families with autosomal dominant pure hereditary spastic paraplegia (ADPHSP), to examine the relative frequency

94. A Quantitative Study Of Sensory Function In Hereditary Spastic Paraplegia -- Sch studied in 23 patients from 14 families with hereditary spastic paraplegia . Autosomal dominant spastic paraplegia Refined SPG8 locus and additional http://brain.oxfordjournals.org/cgi/content/abstract/113/3/709

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (33) Request Permissions PubMed PubMed Citation Articles by Schady, W. Articles by Sheard, A. ARTICLES A quantitative study of sensory function in hereditary spastic paraplegia W Schady and A Sheard Department of Neurology, Manchester Royal Infirmary, UK. Somatic sensation was studied in 23 patients from 14 families with hereditary spastic paraplegia. Quantitative sensory testing revealed significantly raised thermal, heat pain, vibratory and tactile thresholds in patients as compared with normal controls. Cutaneous sensitivity was more severely impaired in the feet than in the hand. All patients had at

95. Oligodendroglial Modulation Of Fast Axonal Transport In A Mouse Model Of Heredit Using a mouse model of hereditary spastic paraplegia type 2 due to a null mutationof the myelin Plp gene, we find a progressive impairment in fast http://www.jcb.org/cgi/content/abstract/166/1/121

Home Help Feedback Subscriptions ... Table of Contents Published online June 28, 2004. doi:10.1083/jcb.200312012 The Rockefeller University Press JCB, Volume 166, Number 1, 121-131 This Article Full Text PDF (Full Text) Supplemental Material Index ... Citation Map Services Alert me to new content in the JCB Download to citation manager Cited by other online articles PubMed PubMed Citation Articles by Edgar, J. M. Articles by Griffiths, I. R. Article Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia Julia M. Edgar Mark McLaughlin Donald Yool Su-Chun Zhang Jill H. Fowler Paul Montague Jennifer A. Barrie Mailis C. McCulloch Ian D. Duncan James Garbern Klaus A. Nave , and Ian R. Griffiths Applied Neurobiology Group, Institute of Comparative Medicine Clinical Neuroscience, Wellcome Surgical Institute, University of Glasgow, Glasgow G61 1QH, Scotland, UK Department of Medical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706 Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201

96. Strümpell-Lorrain Disease (www.whonamedit.com) Facial spastic paraplegia, familial spastic paraplegia, familial spastic paraparesis, hereditary spastic paraparesis, hereditary spastic paraplegia, http://www.whonamedit.com/synd.cfm/1759.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related 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.

97. FAMILIAL SPASTIC PARAPLEGIA : Contact A Family - For Families With Disabled Chil Familial Spastic Paraplegia hereditary spastic paraplegia; Strumpell disease.Familial Spastic Paraplegia (FSP) describes a group of largely progressive http://www.cafamily.org.uk/Direct/f21.html

printer friendly FAMILIAL SPASTIC PARAPLEGIA home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no 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.

98. Français / hereditary spastic paraplegia is the degeneration of the spinal cord which isvisible through walking problems which slowly develop to paralysis of the legs 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 Jean-Pierre Blois / write to the Webmaster Philippe Grammont Any comment about these pages will be welcome. The site is run by the founder member of A.SL, who suffers from the illness and uses only the experience he has gained. In no way can the contents of these pages be used for medical diagnosis. Please consult your doctor.

99. Familial Spastic Paraplegia - For Patients And Families - The Familial spastic paraparesis/paraplegia (FSP) and hereditary spasticparaparesis/paraplegia (HSP) are names applied to a group of degenerative neurological http://www.chg.duke.edu/patients/fsp.html

100. Paraplegia, Hereditary Spastic Synonyms, Eastern Carolina paraplegia, hereditary spastic Synonyms University Health Systems of EasternCarolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/113836.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Paraplegia, Hereditary Spastic Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Paraplegia, Hereditary Spastic is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Familial Spastic Paraplegia FSP HSP Spastic Spinal Familial Paralysis Strumpell's Familial Paraplegia Strumpell-Lorrain Familial Spasmodic Paraplegia Strumpell Disease Strumpell-Lorraine Syndrome Disorder Subdivisions Hereditary spastic paraplegia, complicated Hereditary spastic paraplegia, uncomplicated ("pure") General Discussion HSP may be classified into two major subtypes: "uncomplicated" or "complicated" HSP. In individuals with uncomplicated (or "pure") HSP, progressive spastic paraplegia occurs as an isolated, primary finding. In those with complicated HSP, additional neurologic abnormalities are present. Some individuals with uncomplicated HSP may develop muscle spasms and difficulties with bladder control. In those with complicated HSP, associated symptoms and findings may include visual and/or hearing impairment, mental retardation, impaired control of voluntary movements (ataxia), and/or other abnormalities. According to researchers, changes (mutations) of many different genes may cause HSP. In most cases, such mutations appear to be transmitted as an autosomal dominant trait. More rarely, mutations for HSP may be inherited as an autosomal recessive or X-linked recessive trait. The basic underlying defect or defects in HSP are unknown. However, associated symptoms appear to result from progressive degenerative changes of regions of the spinal cord (corticospinal tracts) that convey motor impulses from the brain to muscles involved in controlling certain voluntary movements

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