Living with Cerebral folate transport deficiency
A condition caused by too little folate in the brain, with loss of skills in childhood and seizures.
Understanding Cerebral folate transport deficiency
Children develop normally in infancy, but around age 2 they begin to lose skills they had learned (psychomotor regression). They develop intellectual disability, speech difficulties, and repeated seizures (epilepsy). Tremors and trouble with coordination (ataxia) can be severe, and some people need a wheelchair.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Loss of learned skills around age 2
- Intellectual disability
- Speech difficulties
- Repeated seizures (epilepsy)
- Tremors
- Poor coordination (ataxia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in FOLR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pediatric Neurotransmitter Disease Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FOLR1 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: cerebral folate deficiency; cerebral folate deficiency syndrome; cerebral folate receptor alpha deficiency; folate receptor deficiency; neurodegeneration due to cerebral folate transport deficiency; neurodegenerative syndrome due to cerebral folate transport deficiency
Patient organizations
- Pediatric Neurotransmitter Disease AssociationCerebral folate transport deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Cerebral folate transport deficiency.
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