Paraplegia

Common Name(s)

Paraplegia

Description for this condition is not yet available.
 

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Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paraplegia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Paraplegia" returned 565 free, full-text research articles on human participants. First 3 results:

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.
 

Author(s): Matthis Synofzik, Rebecca Schüle, Martin Schulze, Janina Gburek-Augustat, Roland Schweizer, Anja Schirmacher, Ingeborg Krägeloh-Mann, Michael Gonzalez, Peter Young, Stephan Züchner, Ludger Schöls, Peter Bauer

Journal:

 

Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we aimed to investigate the phenotypic and genotypic spectrum of STUB1 ...

Last Updated: 25 Apr 2014

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Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.
 

Author(s): Loretta Racis, Eugenia Storti, Maura Pugliatti, Virgilio Agnetti, Alessandra Tessa, Filippo M Santorelli

Journal:

 

The hereditary spastic paraplegias (HSPs) are pleiomorphic disorders of motor pathway and a large number of affected genes have been discovered. Yet, mutations in SPG4/SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases. We describe ...

Last Updated: 8 Apr 2014

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Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
 

Author(s): Typhaine Esteves, Alexandra Durr, Emeline Mundwiller, José L Loureiro, Maxime Boutry, Michael A Gonzalez, Julie Gauthier, Khalid H El-Hachimi, Christel Depienne, Marie-Paule Muriel, Rafael F Acosta Lebrigio, Marion Gaussen, Anne Noreau, Fiorella Speziani, Alexandre Dionne-Laporte, Jean-François Deleuze, Patrick Dion, Paula Coutinho, Guy A Rouleau, Stephan Zuchner, Alexis Brice, Giovanni Stevanin, Frédéric Darios

Journal: Am. J. Hum. Genet.. 2014 Feb;94(2):268-77.

 

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome ...

Last Updated: 10 Feb 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Paraplegia" returned 23 free, full-text review articles on human participants. First 3 results:

Spontaneous spinal epidural hematoma: a rare cause of paraplegia in pregnancy.
 

Author(s): Prasad Krishnan, Rajaraman Kartikueyan

Journal: Neurol India. ;62(2):205-7.

 

Last Updated: 14 May 2014

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Clinical features and management of hereditary spastic paraplegia.
 

Author(s): Ingrid Faber, Katiane R Servelhere, Alberto R M Martinez, Anelyssa D'Abreu, Iscia Lopes-Cendes, Marcondes C França-Jr

Journal: Arq Neuropsiquiatr. 2014 Mar;72(3):219-26.

 

Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases ...

Last Updated: 28 Mar 2014

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Ophthalmoplegia and flaccid paraplegia in a patient with anti-NMDA receptor encephalitis: a case report and literature review.
 

Author(s): Yuichi Ishikawa, Ken Ikeda, Kiyoko Murata, Takehisa Hirayama, Takanori Takazawa, Masaru Yanagihashi, Osamu Kano, Kiyokazu Kawabe, Yukitoshi Takahashi, Yasuo Iwasaki

Journal: Intern. Med.. 2013 ;52(24):2811-5.

 

We herein report the case of a 26-year-old woman with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis presenting with ophthalmoplegia and flaccid paraplegia. She developed disorientation and hallucination after fever and vomiting. Hypothermia, hypoventilation, hypertension, ...

Last Updated: 16 Dec 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The ReWalk Exoskeletal Walking System for Persons With Paraplegia
 

Status: Recruiting

Condition Summary: Paraplegia

 

Last Updated: 27 Mar 2014

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SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
 

Status: Recruiting

Condition Summary: Cerebellar Ataxias; Spastic Paraplegias

 

Last Updated: 26 Mar 2012

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