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SPG11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SPG11 gene

The SPG11 gene provides instructions for producing the protein spatacsin, which is believed to play a critical role in the maintenance of nerve cell axons throughout the nervous system.

Normal Function

The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown. Researchers speculate that it may help control the activity of particular genes (gene expression) or play a role in the transport (trafficking) of proteins. Spatacsin may also be involved in the maintenance of axons, which are specialized extensions of nerve cells (neurons) that transmit impulses throughout the nervous system.

Health Conditions Related to Genetic Changes

Spastic paraplegia type 11

More than 65 mutations in the SPG11 gene have been found to cause spastic paraplegia type 11. Most of these mutations change the structure of the spatacsin protein. The effect that the altered spatacsin protein has on the nervous system is not known. Researchers suggest that mutations in spatacsin may cause the signs and symptoms of spastic paraplegia type 11 by interfering with the protein's proposed role in the maintenance of axons.

Amyotrophic lateral sclerosis

MedlinePlus Genetics provides information about Amyotrophic lateral sclerosis.

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease.

Frequently Asked Questions

Management typically focuses on symptom relief and maintaining mobility. Physical therapy is crucial to help improve muscle strength, flexibility, and gait, and to reduce spasticity. Occupational therapy can assist with daily living activities. Assistive devices like canes, walkers, or braces may be recommended as the condition progresses. Medications can also be used to help manage muscle stiffness and spasms.
Early symptoms often include progressive weakness and stiffness (spasticity) in the legs, leading to difficulty walking, tripping, and an unsteady gait. Over time, these symptoms can worsen and may affect balance and coordination. Some individuals might also experience cognitive difficulties or problems with speech.
Spastic paraplegia type 11 is inherited in an autosomal recessive pattern. This means a person must inherit two copies of the mutated SPG11 gene, one from each parent, to develop the condition. If you have the condition, your children will be carriers if their other parent does not have the condition. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two mutated copies and develop the condition, a 50% chance the child will be a carrier, and a 25% chance the child will not inherit the mutation at all.
While SPG11 mutations primarily cause spastic paraplegia type 11, they have also been associated with an increased risk or features overlapping with other neurological conditions. These include amyotrophic lateral sclerosis (ALS), which affects nerve cells in the brain and spinal cord, and Charcot-Marie-Tooth disease, a group of disorders that affect peripheral nerves. Regular neurological evaluations can help monitor for any signs of these related conditions.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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