41. UniProt Knowledgebase Keyword: Hereditary Spastic Paraplegia UniProt Knowledgebase keyword hereditary spastic paraplegia Protein which,if defective, causes hereditary spastic paraplegias (HSPs). http://www.expasy.org/cgi-bin/get-entries?KW=Hereditary spastic paraplegia

42. Diagnosing Hereditary Spastic Paraplegia Patient medical question and doctor answer from The Neurology and NeurosurgeryForum. Health topic area and articles about neurology general Topics . http://www.medhelp.org/forums/neuro/archive/1298.html

Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Forum: The Neurology and Neurosurgery Forum Topic: Neurology - General Subject: Diagnosing Hereditary Spastic Paraplegia Posted by CCF MD on August 15, 1997 at 09:41:49: In Reply to: Diagnosing Hereditary Spastic Paraplegia posted by Cheryl on July 28, 1997 at 13:03:46: : I am trying to verify whether or not a blood test exists to diagnose Hereditary Spastic Paraplegia (or Familial Spastic Paraparesis). I have heard that there may be a blood test available for the X-linked gene, but have not been able to verify that, or find out if tests are currently available for any of the other genes. Tough question. This is not an active area of research in our institution so I'm not sure how much help I can be. I've asked around and the word I hear is that the gene locus is being looked at in the various subtypes but I think that any testing is still experimental. I will give you some reference articles and you could always contact that institution to see if they have anything available.

43. X Linked Recessive Hereditary Spastic Paraplegia : On Medical Dictionary Online X linked Recessive hereditary spastic paraplegia defined on the Free OnlineMedical Dictionary. Medical terminology definitions including drugs, http://www.online-medical-dictionary.org/X linked Recessive Hereditary Spastic P

44. X-linked Recessive Hereditary Spastic Paraplegia : On Medical Dictionary Online Xlinked Recessive hereditary spastic paraplegia defined on the Free OnlineMedical Dictionary. Medical terminology definitions including drugs, http://www.online-medical-dictionary.org/X-linked Recessive Hereditary Spastic P

45. University Of Miami School Of Medicine - Glossary - Autosomal Dominant Hereditar Autosomal dominant hereditary spastic paraplegia A degenerative disorder of nerves In hereditary spastic paraplegia there is an insidiously progressive http://www.med.miami.edu/glossary/art.asp?articlekey=10971

46. Hereditary Spastic Paraplegia With Frontal Lobe Dysfunction: A Clinicopathologic The authors report an unusual family with hereditary spastic paraplegia (HSP)with frontal lobe dysfunction having the onset in the sixth decade. http://www.neurology.org/cgi/content/abstract/63/11/2149

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Alert me if a correction is posted Services Email this article 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 Yanase, D. Articles by Yamada, M. Related Collections SPECT Spastic paraplegia All Cognitive Disorders/Dementia All Genetics NEUROLOGY 2004;63:2149-2152 American Academy of Neurology Brief Communications Hereditary spastic paraplegia with frontal lobe dysfunction A clinicopathologic study D. Yanase, MD K. Komai, MD, PhD T. Hamaguchi, MD S. Okino, MD, PhD H. Yokoji, MD, PhD T. Makifuchi, MD, PhD H. Takano, MD, PhD and M. Yamada, MD, PhD From the Department of Neurology and Neurobiology of Aging (Drs. Yanase, Komai, Hamaguchi, Okino, and Yamada), Kanazawa University Graduate School of Medical Science, Department of Neurology (Dr. Yokoji), Noto General Hospital, Ishikawa, Department of Clinical Research (Dr. Makifuchi), National Saigata Hospital, Niigata, and Department of Neurology (Dr. Takano), Brain Research Institute, Niigata University, Japan. Address correspondence and reprint requests to Dr. D. Yanase, Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1, Takara-machi, Kanazawa 920-8640, Japan; e-mail:

47. Neurology -- Sign In Page The authors report an unusual family with hereditary spastic paraplegia (HSP) with hereditary spastic paraplegia (HSP) is a heterogeneous group of http://www.neurology.org/cgi/content/full/63/11/2149

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Neurology Online. Full Text Hereditary spastic paraplegia with frontal lobe dysfunction: A clinicopathologic... Yanase et al. Neurology. This Article Abstract Figures Only Full Text (PDF) ... Alert me if a correction is posted Services Email this article 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 Yanase, D. Articles by Yamada, M. Related Collections SPECT Spastic paraplegia All Cognitive Disorders/Dementia All Genetics To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$20.00

48. The FSP Page - Familial Spastic Paraparesis known as Familial Spastic Paraparesis (FSP), also known as Hereditary SpasticParaplegia Familial Spastic Paraparesis hereditary spastic paraplegia http://www.geocities.com/HotSprings/Spa/2847/

Welcome to the FSP Page! Familial Spastic Paraparesis Hereditary Spastic Paraplegia The FSP Page now has a new name and new location! Please vist our new site at: Spastic Paraplegia Foundation- http://sp-foundation.org Hereditary spastic paraplegia is an inherited spinal cord disorder characterized by gradual development of muscle weakness, spasms, and stiffness of the legs. Symptoms may be first noticed in early childhood, or at any age though adulthood. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms may appear, or the weakness and stiffness may spread to other parts of the body. The terms "Hereditary Spastic Paraplegia" (HSP) and "Familial Spastic Paraparesis" (FSP) are the commonly used names in the United States for this disorder. For those in Europe, "Strumpell-Lorrain" is probably more common. These terms all refer to the same set of disorders. Other names associated with this disease are Strümpell-Lorrain familial spasmodic paraplegia, Strümpell's familial paraplegia, spasmodic infantile paraplegia, spastic congenital paraplegia, spastic spinal familial paralysis, hereditary spastic paraparesis, and familial spastic paraplegia.

49. Hereditary Spastic Paraplegia The Essentials on hereditary spastic paraplegia Guidelines. Overview. What IsHereditary Spastic The Genome Project and hereditary spastic paraplegia http://www.icongrouponline.com/health/Hereditary_Spastic_Paraplegia.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: The Official Patient's Sourcebook on HEREDITARY SPASTIC PARAPLEGIA (Familial Spastic Paraplegia; Spastic Spinal Familial Paralysis; Strumpell Disease; Strumpell-Lorrain Familial Spasmodic Paraplegia; Strumpell-Lorraine Syndrome; Strumpell's Familial Paraplegia) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Hereditary Spastic Paraplegia. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Familial Spastic Paraplegia; Spastic Spinal Familial Paralysis; Strumpell Disease; Strumpell-Lorrain Familial Spasmodic Paraplegia; Strumpell-Lorraine Syndrome; Strumpell's Familial Paraplegia Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Hereditary Spastic Paraplegia: Guidelines

50. Arch Neurol -- Abstract: Clinical Progression And Genetic Analysis In Hereditary Background hereditary spastic paraplegia (HSP) with thin corpus callosum (CC) isa rare hereditary spastic paraplegia Spastin Phenotype and Function http://archneur.ama-assn.org/cgi/content/abstract/61/1/117

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 61 No. 1, January 2004 Featured Link E-mail Alerts Observation Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Winner B Winkler J Articles that cite this article ISI Web of Science (1) ... Contact me when this article is cited Topic Collections Neurogenetics Movement Disorders Topic Collection Alerts Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 ( Beate Winner, MD Goekhan Uyanik, MD Claudia Gross, MSc Max Lange, MD Wilhelm Schulte-Mattler, MD Gerhard Schuierer, MD Joerg Marienhagen, MD Ute Hehr, MD Juergen Winkler, MD Arch Neurol.

51. Arch Neurol -- Abstract: Hereditary Spastic Paraplegia: Clinical Genetic Study O Background Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainlycaused by hereditary spastic paraplegia Spastin Phenotype and Function http://archneur.ama-assn.org/cgi/content/abstract/61/6/849

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 61 No. 6, June 2004 Featured Link E-mail Alerts Original Contribution Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Orlacchio A Bernardi G Articles that cite this article ISI Web of Science (1) ... Contact me when this article is cited Topic Collections Neurogenetics Neuromuscular diseases Topic Collection Alerts Hereditary Spastic Paraplegia Clinical Genetic Study of 15 Families Antonio Orlacchio, MD, PhD Toshitaka Kawarai, MD Antonio Totaro, BSc Alessia Errico, MPhil Peter H. St George-Hyslop, MD, FRCPC Elena I. Rugarli, MD Giorgio Bernardi, MD Arch Neurol. Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations in the gene, which

52. MEDICAL BIOLOGY HEREDITARY SPASTIC PARAPLEGIA hereditary spastic paraplegia (HSP) is characterized by progressive A kinesinkeavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). http://scienceweek.com/2004/sc041217-3.htm

53. Paraplegia - Leflaw.com - FREE Case Evaluation... Call To Speak With An Attorney hereditary spastic paraplegia is the term for a group of inherited neurological There are at least 20 known types of hereditary spastic paraplegia, http://www.leflaw.com/index.php?module=pagemaster&PAGE_user_op=view_page&PAGE_id

54. Arquivos De Neuro-Psiquiatria - hereditary spastic paraplegia ASSOCIATED WITH THIN CORPUS CALLOSUM Hereditaryspastic paraplegia (HSP) is a heterogeneous group of genetic http://www.scielo.br/scielo.php?pid=S0004-282X2001000500025&script=sci_arttext&t

55. Arquivos De Neuro-Psiquiatria - MACHADOJOSEPH DISEASE VERSUS hereditary spastic paraplegia. Case report. H?o A.Ghizoni Teive1, Fabio Massaiti Iwamoto1, Carlos Henrique Camargo1, http://www.scielo.br/scielo.php?pid=S0004-282X2001000500030&script=sci_arttext&t

56. Spastin, The Protein Mutated In Autosomal Dominant Hereditary Spastic Paraplegia hereditary spastic paraplegia (HSP) is characterized by progressive weakness and The hereditary spastic paraplegia protein spastin interacts with the http://hmg.oxfordjournals.org/cgi/content/abstract/11/2/153

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 (58) Request Permissions PubMed PubMed Citation Articles by Errico, A. Articles by Rugarli, E. I. Human Molecular Genetics, 2002, Vol. 11, No. 2 Oxford University Press Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics Alessia Errico Andrea Ballabio and Elena I. Rugarli Telethon Institute of Genetics and Medicine (TIGEM) and Faculty of Medicine, II University of Naples, Naples, Italy Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs, caused by the specific

57. The Hereditary Spastic Paraplegia Protein Spastin Interacts With The ESCRT-III C Pure hereditary spastic paraplegia is characterized by lengthdependent degenerationof the distal ends of long axons. Mutations in spastin are the most http://hmg.oxfordjournals.org/cgi/content/abstract/14/1/19

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Human Molecular Genetics Advance Access originally published online on November 10, 2004 Human Molecular Genetics 2005 14(1):19-38; doi:10.1093/hmg/ddi003 This Article Full Text FREE Full Text (PDF) Supplementary Material All Versions of this Article: most recent 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 PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Reid, E. Articles by Sanderson, C. M. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B Evan Reid James Connell Thomas L. Edwards Simon Duley Stephanie E. Brown and Christopher M. Sanderson Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge CB2 2XY, UK and Medical Research Council Rosalind Franklin Centre for Genomics Research, Hinxton, Cambridge CB10 1SB, UK

58. The EyePathologist Disease - H hereditary spastic paraplegia type 1 Klintworth, Gordon K. Hereditary spasticparaplegia type 11 - Klintworth, Gordon K. hereditary spastic paraplegia http://www.eyepathologist.com/LIST.ASP?Title=H

59. MDVU Resource Library - Hereditary Spastic Paraplegia hereditary spastic paraplegia (HSP) is a group of genetic, degenerative disordersof the spinal cord characterized by progressive paraplegia and spasticity http://www.mdvu.org/library/disease/hsp/

WE MOVE 204 West 84th Street New York, NY 10024 E-mail: wemove@wemove.org Resource Library Movement Disorders Description Symptoms/Findings/ ... References Latest Hereditary Spastic Paraplegia News from E-MOVE Announcement: Movement Disorders Virtual University Is Open Announcement: New HD, HSP Pages on the WE MOVE Site Resource Library Search the E-MOVE Archives Our Mission Professional Services Make a Donation ... Contact Us Hereditary Spastic Paraplegia Description Hereditary spastic paraplegia (HSP) is a group of genetic, degenerative disorders of the spinal cord characterized by progressive weakness (paraplegia) and stiffness (i.e., spasticity) of the legs. Spasticity refers to excessive muscle tone (hypertonicity) or muscle overactivity with increased velocity-dependent resistance to stretch. This group of disorders is also sometimes referred to as... Familial spastic paraparesis (FSP) Familial spastic paraplegia (FSP) Hereditary spastic paraparesis Strumpell-Lorraine syndrome Strumpell's disease HSP is often classified based upon whether progressive spasticity occurs as an isolated finding (i.e., uncomplicated or "pure" HSP) or with other neurologic abnormalities (i.e., complicated HSP). In families (kindreds) affected by complicated HSP, associated neurologic features have included mental retardation; deafness; degenerative changes of the retinas or the nerve-rich, innermost membranes of the eyes (retinopathy); impaired coordination of voluntary movements (ataxia); or progressive deterioration of thought processing and acquired intellectual abilities (dementia).

60. MDVU Resource Library - Hereditary Spastic Paraplegia - Additional References Advances in hereditary spastic paraplegia. Curr Opin Neurol. 1997;10313318 . hereditary spastic paraplegia advances in genetic research. http://www.mdvu.org/library/disease/hsp/hsp_ref.html

WE MOVE 204 West 84th Street New York, NY 10024 E-mail: wemove@wemove.org Resource Library Movement Disorders Description Symptoms/Findings/ ... References Resource Library Research News Our Mission Professional Services Make a Donation ... Contact Us Hereditary Spastic Paraplegia References Boustany RMN, Fleischnick E, Alper CA, et al. The autosomal dominant form of 'pure' familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree. Neurology. Byrne, PC, Webb S, McSweeney F, Burke T, Hutchinson M, Parfrey NA. Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance. Europ J Hum Genet. Cooley WC, Rawnsley E, Melkonian G, et al. Autosomal dominant familial spastic paraplegia: report of a large New England family. Clin Genet. Durr A, Davoine CS, Paternotte C, et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain. Fink JK. Advances in hereditary spastic paraplegia. Curr Opin Neurol.

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