Cerebral Aβ amyloid angiopathy is a severe disease characterised by amyloid deposits in the cerebral vessels, manifested mainly by recurrent cerebral haematomas and cognitive impairment. Diagnostic criteria are based on brain imaging, but the usefulness of this imaging in predicting the course of the disease remains undetermined. The genetic component is largely understudied. Less than 5% of patients carry mutations or duplications of the APP gene. Susceptibility factors such as APOE genotypes and rare variants recently discovered in Alzheimer's disease within the SORL1, TREM2 or ABCA7, ABCA1 and ATP8B4 genes could play a role in the pathophysiology of cerebral amyloid angiopathy. There is currently no specific treatment available. Based on a national recruitment of patients with cerebral amyloid angiopathy, this project aims to assess the role of genetic variants in the diagnosis and progression of cerebral amyloid angiopathy. A better understanding of the mechanisms, particularly genetic, could help us to develop treatments in the era of gene therapy.
Eligibility
Sex
ALL
Min age
18 Years
Max age
99 Years
Healthy volunteers
Accepted
Inclusion Criteria:
* Patients with a diagnosis of cerebral amyloid angiopathy (CAA) whose genetic samples are initially sent to the Rouen or Paris-Lariboisière genetics laboratories for molecular diagnosis of a genetic cause, thanks to national recruitment and for whom the patients consent to continuing genetic analyses for research purposes without feedback.
* Diagnosis of cerebral amyloid angiopathy (CAA) certain or probable according to the modified Boston diagnostic criteria (1) (except age)
* Age of onset of symptoms \<66 years
* Absence of APP mutation/duplication (analysis must already have been carried out in the laboratory on receipt of the sample as part of routine care)
* Signed consent for research
* Patient covered by a social security scheme
Exclusion Criteria:
* Age at first neurological symptom \> 66 years
* Minor patients
* Other differential diagnosis that better explains the clinical situation
* Identification of mutations or duplication of the APP gene
* AAC possible but not probable according to the revised Boston criteria
* Patient deprived of liberty by judicial or administrative decision
Primary outcome measure(s)
patients with APOE4 genetic risk factors — 1 day Define the proportion of patients with APOE4 genetic risk factors (%) in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
patients with rare variants of SORL1 — 1 day Define the proportion of patients with rare variants (%) of SORL1, in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
patients with rare variants of TREM2 — 1 day Define the proportion of patients with rare variants (%) of TREM2 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
patients with rare variants of ABCA7 — 1 day Define the proportion of patients with rare variants (%) of ABCA7 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
patients with rare variants of ABCA1 — 1 day Define the proportion of patients with rare variants (%) of ABCA1 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
patients with rare variants of ATP8B4 — 1 day Define the proportion of patients with rare variants (%) of ATP8B4 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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