Hereditary spastic paraplegia

Common Name(s)

Hereditary spastic paraplegia, Hereditary Spastic Paraparesis, Familial Spastic Paraparesis

Hereditary spastic paraplegia is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs leading to difficulty walking.  As degeneration continues, symptoms worsen.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary spastic paraplegia" for support, advocacy or research.

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Spastic Paraplegia Foundation, Inc.

We are committed to discovering the cures for HSP and PLS by promoting research, providing accurate information about these disorders, and creating opportunities for mutual support and sharing.

Last Updated: 29 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary spastic paraplegia" for support, advocacy or research.

Logo
Spastic Paraplegia Foundation, Inc.

We are committed to discovering the cures for HSP and PLS by promoting research, providing accurate information about these disorders, and creating opportunities for mutual support and sharing.

http://www.sp-foundation.org

Last Updated: 29 Oct 2012

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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 "Hereditary spastic paraplegia" returned 102 free, full-text research articles on human participants. First 3 results:

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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A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.
 

Author(s): Mukhran Khundadze, Katrin Kollmann, Nicole Koch, Christoph Biskup, Sandor Nietzsche, Geraldine Zimmer, J Christopher Hennings, Antje K Huebner, Judit Symmank, Amir Jahic, Elena I Ilina, Kathrin Karle, Ludger Schöls, Michael Kessels, Thomas Braulke, Britta Qualmann, Ingo Kurth, Christian Beetz, Christian A Hübner

Journal: PLoS Genet.. 2013 ;9(12):e1003988.

 

Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the degeneration of cortical motoneuron axons. SPG15 is a recessively inherited HSP variant caused by mutations in the ZFYVE26 gene and is additionally characterized ...

Last Updated: 24 Dec 2013

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[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].
 

Author(s): Sergio A Rodríguez-Quiroga, Dolores González-Morón, Tomoko Arakaki, Nélida Garreto, Marcelo A Kauffman

Journal: Medicina (B Aires). 2013 ;73(6):552-4.

 

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the ...

Last Updated: 20 Dec 2013

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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 "Hereditary spastic paraplegia" returned 6 free, full-text review articles on human participants. First 3 results:

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
 

Author(s): John K Fink

Journal: Acta Neuropathol.. 2013 Sep;126(3):307-28.

 

Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. There are more than 50 genetic types of HSP. HSP affects individuals of diverse ethnic groups with prevalence ...

Last Updated: 27 Aug 2013

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Neuropathology: many paths lead to hereditary spastic paraplegia.
 

Author(s): Robert M Gould, Scott T Brady

Journal: Curr. Biol.. 2004 Oct;14(20):R903-4.

 

Studies with animal models are providing new insights into the pathology of hereditary spastic paraplegia, particularly how mutations in multiple, converging pathways can lead to this family of neuropathies.

Last Updated: 22 Oct 2004

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Is the transportation highway the right road for hereditary spastic paraplegia?
 

Author(s): Andrew H Crosby, Christos Proukakis

Journal: Am. J. Hum. Genet.. 2002 Nov;71(5):1009-16.

 

The term "hereditary spastic paraplegia" (HSP) refers to a genetically and clinically diverse group of disorders whose primary feature is progressive spasticity of the lower extremities. The condition arises because of degeneration of the longest motor and sensory axons on the spinal ...

Last Updated: 25 Oct 2002

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic and Physical Study of Childhood Nerve and Muscle Disorders
 

Status: Recruiting

Condition Summary: Muscular Dystrophies; Muscle Myopathies; Hereditary Spastic Paraplegias; Inherited Neuropathies; Inherited Neuromuscular Conditions

 

Last Updated: 7 Jun 2014

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