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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

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ALS Treatment: Amyotrophic Lateral Sclerosis Lou Gehrigs Disease
Home About Us Products Disorders FAQ Message Board Resources Your AccountShopping Cart, hereditary spastic paraplegia (HSP). Hereditary
http://www.enhancedlifesciences.com/hspinfo.php

Extractions: path = "http://www.enhancedlifesciences.com/"; Home About Us Products Disorders ... Shopping Cart 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.
Entrez PubMed
Click here to read Spastin, the protein mutated in autosomal dominanthereditary spastic paraplegia, is involved in microtubule dynamics.
http://www.biomedcentral.com/pubmed/11809724

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Arquivos De Neuro-Psiquiatria -
hereditary spastic paraplegia ASSOCIATED WITH THIN CORPUS CALLOSUM. KEYWORDS hereditary spastic paraplegia, corpus callosum, MRI.
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2001000500025&l
Arq. Neuro-Psiquiatr. Vol.59 no.3B; Abstract: S0004-282X2001000500030
MachadoJoseph disease versus hereditary spastic paraplegia case report. Arq.Neuro-Psiquiatr., Sept. 2001, vol.59, no.3B, p.809-811. ISSN 0004-282X.
http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0004-282X2001000500030&
Hereditary Spastic Paraplegia Medical Wisdom Information
hereditary spastic paraplegia Information Page. Table of Contents (click to jumpto sections). What is hereditary spastic paraplegia? Is there any treatment?
http://medicalwisdom.com/health/disorders/hereditarysp.htm

Extractions: Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs. Though the primary feature of HSP is severe, progressive, lower extremity spasticity, in more complicated forms it can be accompanied by other neurological symptoms. These include optic neuropathy, retinopathy (diseases of the retina), dementia, ataxia (lack of muscle control), icthyosis (a skin disorder resulting in dry, rough, scaly skin), mental retardation, peripheral neuropathy, and deafness. Diagnosis is primarily by neurological examination and testing to exclude other disorders. Specialized genetic testing and diagnosis are available at some medical centers. Is there any treatment?
Specialty Laboratories ::: We Help Doctors Help Patients
Print View. hereditary spastic paraplegia E. Robert Wassman, MD Hereditary spasticparaplegia (HSP) can be divided into pure and complex forms with associated
http://www.specialtylabs.com/books/display.asp?id=937
PillSupplier.com - Conditions And Diseases/Genetic Disorders/Hereditary Spastic
Category hereditary spastic paraplegia. HOME Login . Conditions andDiseases/Genetic Disorders/hereditary spastic paraplegia. Links
http://www.pillsupplier.com/dir/862/
Genetics Of Hereditary Spastic Paraplegia
Genetics of hereditary spastic paraplegia. Wednesday, September 04, 2002.hereditary spastic paraplegia with identified gene loci or mutations.
http://www.angelfire.com/retro/michaelpoon168/genetics_of_hereditary_spastic_par

Extractions: Michael Poon's Shrine of Neurology HOME CONTENTS CONTACT US HOME ... CONTACT US Genetics of hereditary spastic paraplegia Wednesday, September 04, 2002 Hereditary spastic paraplegia with identified gene loci or mutations Notation Inheritance Gene location Gene identified XR XR Proteolipid protein AD AD Spastin AR AD AR Paraplegin AD AD AD AR AD AD AR AD = autosomal dominant; AR = autosomal recessive; XR = X-linked recessive.
Startplane /Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_Spastic_
hereditary spastic paraplegia. See also Links. GeneClinics An Overview In depth details about hereditary spastic paraplegia. Includes
http://www.startplane.com/Health/Conditions_and_Diseases/Genetic_Disorders/Hered
Mental Retardation, Directory
Human Genome Organisation. hereditary spastic paraplegia. NINDS HereditarySpastic Paraplegia Information Page SPF Spastic Paraplegia
http://www.saunalahti.fi/kup/engl/webs_h.html
MDVU Library - Hereditary Spastic Paraplegia
hereditary spastic paraplegia (HSP) is a group of genetic, degenerative disordersof the spinal cord characterized by progressive paraplegia and spasticity of
http://www.mdvu.org/library/disease/hsp/

Extractions: Library Movement Disorders Latest Hereditary Spastic Paraplegia News from E-MOVE Library 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... 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).
MDVU Library - Hereditary Spastic Paraplegia - Additional References
hereditary spastic paraplegia. References. Boustany RMN, Fleischnick E, Alper CA,et al. Fink JK. Advances in hereditary spastic paraplegia. Curr Opin Neurol.
http://www.mdvu.org/library/disease/hsp/hsp_ref.html

Extractions: Library Movement Disorders Library 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.
ORPHANET - Rare Diseases - Orphan Drugs
Included disease(s) hereditary spastic paraplegia, Xlinked complex Hereditaryspastic paraplegia, autosomal dominant complex hereditary spastic paraplegia
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=685
ParapleginFqgâ`«¾³ihereditary Spastic Paraplegia (HSP)j�
The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set.
http://mukb.medic.kumamoto-u.ac.jp/AAA/minirev/nakairev.html
Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Hereditary Spastic
Wauu.DE Health Conditions and Diseases GeneticDisorders hereditary spastic paraplegia.
http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Hereditary_S
Orthoguide.com Hereditary Spastic ParaplegiaNeuromuscular Home Page E Toxin Axon
Search results for hereditary spastic paraplegia . Orthoguide Matches 1 1 of 1. Search AltaVista for more on hereditary spastic paraplegia .
http://www.mymedline.com/ortho/Hereditary_Spastic_Paraplegia.php3
The Association Of Hereditary Spastic Paraplegia And Hereditary Motor And Sensor
The association of hereditary spastic paraplegia and hereditary motor andsensory neuropathy in the same family Münife Müftüoðlu 1 , MD, Ý.
http://medicine.inonu.edu.tr/dergi/Contents/Volume2/Issue2/Abstract/193-195.html

Extractions: The association of hereditary spastic paraplegia and hereditary motor and sensory neuropathy in the same family Münife Müftüoðlu , M.D., Ý. Özcan Ertürk , M.D., Cemal Özcan , M.D., Hakan Ekmekçi , M.D. The association of hereditary spastic paraplegia (HSP) and sensory neuropathies have been reported in a number of cases. But it is rare to detect both entities seperately in different members of the same family. In the present study, we report clinical and electrophysiological findings of three members of a family. In two of the siblings the clinical picture was indistinguishable from "pure" hereditary spastic paraplegia, but electrophysiological studies revealed a predominantly sensory polyneuropathy. In the third case (the mother of the siblings), the clinical diagnosis was consistent with hereditary motor sensory neuropathy type 2, which was also confirmed by electrophysiological studies. We believe that, with the further genetic reevaluations, the hereditary spastic paraplegia with sensory abnormalities may take a new place in the classification of hereditary motor and sensory polyneuropathies, as a distinct entity.[Journal of Turgut Özal Medical Center 2(2):193-195,1995] Key Words : Hereditary spastic paraplegia, hereditary motor and sensory neuropathy
Disabilityexchange.org - Taxonomy
hereditary spastic paraplegia. Synonym(s) Familial Spastic Paralysis Whatis hereditary spastic paraplegia? hereditary spastic paraplegia
http://www.disabilityexchange.org/taxonomy/index.php?fid=3&path=3_251
GeneTests: Search Results
hereditary spastic paraplegia GeneReview hsp 49579 Resources 53830 Hereditary SpasticParaplegia, Dominant Research Tests 2631 hereditary spastic paraplegia
http://www.genetests.org/query?mim=601162
»»Reviews For Hereditary Spastic Paraplegia««
hereditary spastic paraplegia Reviews. Related Subjects Genetic_Disorders. Bookreviews for hereditary spastic paraplegia sorted by average review score
http://www.booksunderreview.com/Health/Conditions_and_Diseases/Genetic_Disorders

Extractions: Related Subjects: Book reviews for "Hereditary Spastic Paraplegia" sorted by average review score: The Hereditary Ataxias and Related Disorders (Clinical Neurology and Neurosurgery Monographs, Volume 6) Published in Hardcover by Churchill Livingstone (December, 1984) Author: A.E. Harding Amazon base price: Average review score: No reviews found. Sort by: Rank Last Modified Date Title Path Reverse Sort

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