Living with Cholestanol storage disease
A genetic condition, also called cerebrotendinous xanthomatosis, where fats build up in the brain and tendons and affect the nervous system.
Understanding Cholestanol storage disease
Fats, including forms of cholesterol, build up as fatty yellow nodules (xanthomas), most often in the brain and in tendons. Nervous system problems often start in early adulthood. They include seizures, movement problems, slurred speech, numbness in the arms and legs, and memory and thinking changes. Tendon nodules usually form in early adulthood too, including in the Achilles tendon.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking (gait disturbance)
- Poor balance and coordination (ataxia)
- Behavior changes
- Movement problems
- Abnormalities of the Achilles tendon
- Abnormal blood vessels in the retina
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, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CYP27A1 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
Foundation of the National Lipid Association, National Ataxia Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation of the National Lipid Association, National Ataxia Foundation, 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 Foundation of the National Lipid 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
GARD says changes in the CYP27A1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cerebral cholesterinosis; cerebrotendinous cholesterinosis; cerebrotendinous xanthomatosis; cholestanolosis; ctx; ctx - cerebrotendinous xanthomatosis
Patient organizations
- Foundation of the National Lipid AssociationCholestanol storage disease · United States
- CTX AllianceCholestanol storage disease · United States
- National Ataxia FoundationAtaxia · United States
- Epilepsy FoundationEpilepsy · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cholestanol storage disease.
Explore research for Cholestanol storage disease
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