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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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 "Hereditary spastic paraplegia" returned 106 free, full-text research articles on human participants. First 3 results:

The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages?
 

Author(s): Mark Braschinsky

Journal: Neuroepidemiology. 2014 ;42(3):184-5.

 

Last Updated: 1 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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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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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 8 free, full-text review articles on human participants. First 3 results:

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.
 

Author(s): Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio

Journal: Exp. Neurol.. 2014 Nov;261():518-39.

 

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition ...

Last Updated: 11 Oct 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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The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
 

Author(s): Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho

Journal: Neuroepidemiology. 2014 ;42(3):174-83.

 

Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their ...

Last Updated: 1 Apr 2014

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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: 27 Sep 2014

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