Living with Leukoencephalopathy, diffuse hereditary, with spheroids 1
An inherited adult-onset brain condition that affects personality, memory, thinking, and movement, usually starting in the forties.
Understanding Leukoencephalopathy, diffuse hereditary, with spheroids 1
White matter is made of nerve fibers covered by myelin. Symptoms usually begin in a person's forties and get worse over time. Early signs can be personality changes, memory loss, and trouble planning. Later, thinking and movement are affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Memory problems
- Trouble planning and problem-solving (executive function)
- Parkinson-like movement changes (parkinsonism)
- Walking difficulty
- Seizures
- Trouble swallowing
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 and genetic specialists.
- 3Consider genetic testing
Changes in CSF1R 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
Sisters' Hope Foundation and United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Sisters' Hope Foundation, United Leukodystrophy 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 Sisters' Hope Foundation 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
It is caused by changes in the CSF1R gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; alsp; autosomal dominant leukoencephalopathy with neuroaxonal spheroids; csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; csf1r-related alsp; csf1r-related hereditary diffuse leukoencephalopathy with spheroids
Patient organizations
- Sisters' Hope FoundationLeukoencephalopathy, diffuse hereditary, with spheroids 1 · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
You are more than your diagnosis
Perspectives from people navigating life with Leukoencephalopathy, diffuse hereditary, with spheroids 1.
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