SPAST

Below is a summary for the SPAST gene observed in research publications. This is not meant to take the place of medical advice.

What is SPAST-related syndrome?

SPAST-related syndrome happens when there are changes to the SPAST gene. These changes can keep the gene from working as it should.

Genetic variants in SPAST can also cause a condition called spastic paraplegia type 4.

Key Role

The SPAST protein plays an important role in organizing the skeleton of the cell.

Symptoms

Because the SPAST gene is important for the proper function of the body’s cells, some people may have:

Autism
Inability to hold their urine
Lower back pain
Lower body weakness
Stiff walking
Intellectual decline or disability
Memory issues
Aggression
Depression

Do people who have SPAST-related syndrome look different?

People who have SPAST-related syndrome do not look different. Those studied so far do not have a specific set of features.

How many people have SPAST-related syndrome?

As of 2022, about 401 people with SPAST-related syndrome have been identified in a medical clinic.

Support Resources

Simons Searchlight Community – SPAST Facebook group
Spastic Paraplegia Foundation, Inc. website – sp-foundation.org
– Spastic Parapelgia Foundation – Facebook page
Geisinger Developmental Disorder Gene Database – SPAST

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for Spastic Paraplegia 4.

Research Article Summary

We currently do not have any article summaries for SPAST, but we add resources to our website as they become available.

The information available about SPAST is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SPAST articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SPAST genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from SPAST families.

Click here to share your family’s story!