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

Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study.
 

Author(s): Cecilia Smith Simonsen, Elisabeth Gulowsen Celius, Cathrine Brunborg, Chantal Tallaksen, Erik Fink Eriksen, Trygve Holmøy, Stine Marit Moen

Journal:

 

Although disability is considered the main cause of low bone mineral density (BMD) in multiple sclerosis (MS), other factors related to the disease process or treatment could also be involved. The aim of this study was to assess whether patients with MS are more likely to develop ...

Last Updated: 6 Dec 2016

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Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18.
 

Author(s): Wo-Tu Tian, Jun-Yi Shen, Xiao-Li Liu, Tian Wang, Xing-Hua Luan, Hai-Yan Zhou, Sheng-Di Chen, Xiao-Jun Huang, Li Cao

Journal: Chin. Med. J.. 2016 11;129(22):2759-2761.

 

Last Updated: 8 Nov 2016

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Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
 

Author(s): Andrea Martinuzzi, Domenico Montanaro, Marinela Vavla, Gabriella Paparella, Paolo Bonanni, Olimpia Musumeci, Erika Brighina, Hana Hlavata, Giuseppe Rossi, Gayane Aghakhanyan, Nicola Martino, Alessandra Baratto, Maria Grazia D'Angelo, Francesca Peruch, Marianna Fantin, Alessia Arnoldi, Andrea Citterio, Chiara Vantaggiato, Vincenzo Rizzo, Antonio Toscano, Nereo Bresolin, Maria Teresa Bassi

Journal:

 

Hereditary spastic paraplegias (HSP) are a composite and genetically heterogeneous group of conditions mainly expressed by the impairment of the central motor system ("pure" forms). The involvement of other components of the central nervous system or of other systems is described ...

Last Updated: 15 Apr 2016

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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 14 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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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

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

Status: Recruiting

Condition Summary: Hereditary Spastic Paraplegia

 

Last Updated: 24 Jan 2017

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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: 21 Mar 2017

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Phenotype, Genotype & Biomarkers in ALS and Related Disorders
 

Status: Recruiting

Condition Summary: Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; Primary Lateral Sclerosis; Hereditary Spastic Paraplegia; Progressive Muscular Atrophy; Multisystem Proteinopathy

 

Last Updated: 15 Nov 2016

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