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 122 free, full-text research articles on human participants. First 3 results:

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
 

Author(s): Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A Hübner, Christian Beetz

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The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires an understanding of the mechanism by which mutations confer pathogenicity. ...

Last Updated: 17 Nov 2015

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Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
 

Author(s): Dietmar R Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik

Journal:

 

Mutations in the SPG7 gene are the most frequent cause of autosomal recessive hereditary spastic paraplegias and spastic ataxias. Ala510Val is the most common SPG7 mutation, with a frequency of up to 1% in the general population. Here we report the clinical, genetic, and neuropathological ...

Last Updated: 28 Oct 2015

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Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).
 

Author(s): Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Musharraf Jelani, Saleem Ahmad, Nirmal Vadgama, Khadijah Bakur, Michael Simpson, Jumana Yousuf Al-Aama, Jamal Nasir

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Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described either as uncomplicated (or pure), or complicated where in addition to spasticity and weakness of lower extremeties, additional ...

Last Updated: 26 Jun 2015

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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 12 free, full-text review articles on human participants. First 3 results:

Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia.
 

Author(s): Hans Zempel, Eva-Maria Mandelkow

Journal:

 

In Alzheimer Disease (AD), the mechanistic connection of the two major pathological hallmarks, namely deposition of Amyloid-beta (Aβ) in the form of extracellular plaques, and the pathological changes of the intracellular protein Tau (such as phosphorylation, missorting, aggregation), ...

Last Updated: 22 Dec 2015

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
 

Status: Recruiting

Condition Summary: Hereditary Spastic Paraplegia

 

Last Updated: 6 Jul 2016

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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: 12 Aug 2016

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Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
 

Status: Recruiting

Condition Summary: Hereditary Spastic Paraplegia

 

Last Updated: 6 Aug 2016

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