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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General Support Organizations

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

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
 

Author(s): Viorica Chelban, Arianna Tucci, David S Lynch, James M Polke, Liana Santos, Hallgeir Jonvik, Stanislav Groppa, Nicholas W Wood, Henry Houlden

Journal: J. Neurol. Neurosurg. Psychiatr.. 2017 Aug;88(8):681-687.

 

The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive lower limb spasticity. They are classified as either 'pure' or 'complex' where spastic paraplegia is complicated with additional ...

Last Updated: 2 Jun 2017

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Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
 

Author(s): Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Toft

Journal:

 

Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ...

Last Updated: 31 Mar 2017

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ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
 

Author(s): Helen M Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa

Journal: Hum. Mol. Genet.. 2017 Apr;26(8):1432-1443.

 

De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay, hypotonia, spasticity, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Using whole-exome sequencing, we identified ...

Last Updated: 3 Feb 2017

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

Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review.
 

Author(s): Sébastien Richard, Julie Lavie, Guillaume Banneau, Nathalie Voirand, Karine Lavandier, Marc Debouverie

Journal: Medicine (Baltimore). 2017 Jan;96(3):e5911.

 

Hereditary spastic paraplegia (HSP) is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. This results in an underestimation of HSP leading to belated diagnosis and management. In depth diagnosis ...

Last Updated: 18 Jan 2017

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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 SPG4: what is known and not known about the disease.
 

Author(s): Joanna M Solowska, Peter W Baas

Journal: Brain. 2015 Sep;138(Pt 9):2471-84.

 

Mutations in more than 70 distinct loci and more than 50 mutated gene products have been identified in patients with hereditary spastic paraplegias, a diverse group of neurological disorders characterized predominantly, but not exclusively, by progressive lower limb spasticity and ...

Last Updated: 25 Aug 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Hereditary Spastic Paraplegia

 

Last Updated: 30 Jun 2017

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The Pre-SPG4 Study
 

Status: Recruiting

Condition Summary: Hereditary Spastic Paraplegia; Hereditary, Spastic Paraplegia, Autosomal Dominant

 

Last Updated: 2 Jul 2017

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Studying Cognition in SPG4
 

Status: Recruiting

Condition Summary: Cognitive Impairment; Hereditary Spastic Paraplegia

 

Last Updated: 10 May 2017

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