Living with Cathepsin a-related arteriopathy-strokes-leukoencephalopathy
A rare adult-onset condition of small brain blood vessels that can cause strokes and changes in thinking.
Understanding Cathepsin a-related arteriopathy-strokes-leukoencephalopathy
It begins in adulthood. Small arteries in the brain thicken, and the brain's white matter becomes damaged (leukoencephalopathy). People may have migraine, strokes, problems with thinking and concentration, depression, trouble swallowing or speaking, dizziness, and high blood pressure that resists treatment. MRI often shows more white matter damage than symptoms suggest.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stroke (cerebral infarct)
- Depression
- Slurred or hard-to-form speech (dysarthria)
- Low blood pressure when standing
- Fainting (syncope)
- Absent ankle reflexes
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 CTSA 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
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: 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 United Leukodystrophy Foundation
- 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 CTSA gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: carasal; carasal - cathepsin a-related arteriopathy, strokes, leukoencephalopathy; cathepsin a-related arteriopathy, strokes, leukoencephalopathy
Patient organizations
- United Leukodystrophy FoundationCathepsin a-related arteriopathy-strokes-leukoencephalopathy · United States
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