Living with HTRA1-related autosomal dominant cerebral small vessel disease
A rare genetic disease of the brain's small blood vessels that usually starts in a person's 60s or 70s.
Understanding HTRA1-related autosomal dominant cerebral small vessel disease
It involves strokes deep in the brain (subcortical ischemic events) along with memory and thinking decline and walking problems. It typically starts in the sixth or seventh decade of life. Brain imaging shows changes in white matter, small stroke areas called lacunar infarcts, and sometimes tiny bleeds. It does not affect other parts of the body.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes:
- Small strokes deep in the brain
- Decline in memory and thinking
- Trouble walking (gait problems)
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 HTRA1 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 HTRA1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: htra serine peptidase 1-related autosomal dominant cerebral small vessel disease; htra1-related autosomal dominant cerebral angiopathy
Patient organizations
- United Leukodystrophy FoundationHTRA1-related autosomal dominant cerebral small vessel disease · United States
You are more than your diagnosis
Perspectives from people navigating life with HTRA1-related autosomal dominant cerebral small vessel disease.
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