Laura and Thad Avery formed the FBXO31 Foundation in 2023 after 20 years of caring for their daughter, Kate, who had been diagnosed with cerebral palsy as a young child. In 2018, after genetic testing as part of a research study, they discovered that Kate had a de novo mutation in the FBXO31 gene which was causing her neuromotor disorder. Connecting with other families who are also affected has inspired them to create the Foundation to build a new community to blaze a trail, support research and find a cure for this ultra-rare disease.
”Do not go where the path may lead, go instead where there is no path and leave a trail.
Ralph Waldo Emerson
About FBXO31
FBXO31- related cerebral palsy (CP) is a neurodevelopmental disorder caused by a mutation in the FBXO31 gene – which has only recently been linked to cerebral palsy.1,2 The patients identified to date carry the same variant in FBXO31 (p. Asp334Asn). The FBXO31 variant can be a de novo (new) mutation that occurs at the time of conception, or it may be inherited from a parent. Research is currently underway to determine how changes in the FBXO31 gene impact the function of the neurons in the brain, neurological development and functioning. Understanding more about the gene’s function will help us move towards finding much needed treatments for this ultra-rare condition.
Most individuals have additional barriers to overcome in order to learn the basic skills like sitting, walking, speaking and feeding themselves. The condition is generally thought to remain constant through life, not worsening, but presenting different challenges as individuals grow and mature. There is much to learn about the disorder, and we hope to identify additional patients, clinicians and researchers who are interested in supporting research and working together to identify treatments.
Features of FBXO31 related Cerebral Palsy may include:
- Hypotonia (low muscle tone)
- Developmental delay
- Speech delay
- Intellectual disability
- Ataxia
- Movement disorder
- Seizures
- Strabismus
- Autism
Not all individuals will present with the same features; for example – some may not have seizures. Given the small number of known patients, it is possible that additional features may be added to the list as more research emerges.