The following information may help to address your question:
What is hereditary spastic paraplegia?
Hereditary spastic paraplegia
(HSP) 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. This leads to difficulty walking. As degeneration continues, symptoms worsen.
If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia
, cognitive impairment, peripheral neuropathy
, and/or deafness, occur.
The different forms of HSP are caused by mutations
in different genes
. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy
Last updated: 4/24/2016
How is hereditary spastic paraplegia (HSP) inherited?
At this point, over 70 different types of HSP have been described.
The different patterns of inheritance are autosomal dominant
, autosomal recessive
, and X-linked recessive
Last updated: 4/24/2016
My family history of hereditary spastic paraplegia (HSP) includes my mother and her brother. Is there a 50% chance that I will also be affected?
HSP can be inherited in different ways in different families. We suggest that you consult with a genetics professional to discuss how this condition is inherited in your family and your risk of developing HSP. In general, when HSP is inherited in an autosomal dominant pattern, there is a 50% chance that the child of an affected indiviudal will also be affected. When only two siblings are affected, it typically cannot be determined if the condition is autosomal dominant. The condition may also be inherited in an autosomal recessive manner.
Last updated: 6/28/2013
What is autosomal recessive inheritance?
inheritance refers to the inheritance pattern in which two mutated
copies of the gene
that causes a disorder are present in each cell
. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers
). Autosomal recessive disorders are typically not seen in every generation of an affected family. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will be affected.
Last updated: 12/28/2015
What is autosomal dominant inheritance?
inheritance is when one mutated
copy of the gene
that causes a disorder in each cell is needed for a person to be affected. Autosomal dominant conditions may occur for the first time in a person in a family due to a spontaneous gene mutation, or these conditions may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.
Last updated: 12/28/2015
How can I learn more about research for hereditary spastic paraplegias?
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. You can find clinical trials for individuals with spastic paraplegias at the following link. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you find trials of interest.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the ClinicalTrials.gov Web page. Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.
You can also learn more about current research from the Spastic Paraplegia Foundation.
Spastic Paraplegia Foundation
4 Sherwood Hill Road
Sherman, CT 06784-2001
Web site: http://www.sp-foundation.org
Last updated: 10/18/2013
Since my family members' cases of hereditary spastic paraplegia (HSP) are severe, does this mean I could also have severe HSP?
It is difficult to predict the severity of HSP without a diagnosis of a specific subtype. In some types, there is variation in the severity of symptoms among family members. Family members in subsequent generations may be more or less severely affected. In some types, a person can inherit the genetic change that causes HSP but not show any symptoms. This phenomenon is called reduced or incomplete penetrance
. Even though these individuals show no symptoms of the disorder, they can still have affected children.
Last updated: 7/5/2013
How can I find a genetics professional in my area?
Last updated: 8/23/2016
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
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