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

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.
 

Author(s): Laura Carosi, Temistocle Lo Giudice, Martina Di Lullo, Federica Lombardi, Carla Babalini, Fabrizio Gaudiello, Girolama Alessandra Marfia, Roberto Massa, Toshitaka Kawarai, Antonio Orlacchio

Journal: J. Neurol. Neurosurg. Psychiatr.. 2015 Jun;86(6):702-4.

 

Last Updated: 15 May 2015

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The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase.
 

Author(s): Jordon M Inloes, Ku-Lung Hsu, Melissa M Dix, Andreu Viader, Kim Masuda, Thais Takei, Malcolm R Wood, Benjamin F Cravatt

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Oct;111(41):14924-9.

 

Complex hereditary spastic paraplegia (HSP) is a genetic disorder that causes lower limb spasticity and weakness and intellectual disability. Deleterious mutations in the poorly characterized serine hydrolase DDHD2 are a causative basis for recessive complex HSP. DDHD2 exhibits phospholipase ...

Last Updated: 15 Oct 2014

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Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene.
 

Author(s): D Arkadir, A Noreau, J S Goldman, G A Rouleau, R N Alcvalay

Journal: Eur. J. Neurol.. 2014 ;21(1):e2.

 

Last Updated: 15 Aug 2014

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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 9 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 Fran├ža-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

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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: 1 Apr 2015

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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: 31 Jul 2015

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