The goal of this study is to identify genetic alterations resulting in the development of
arteriovenous malformation (AVM) in the central nervous system.
The study will include AVM patients and members of their nuclear family. All patients will
donate a sample of saliva (5 mL) or blood (10 mL). Basic demographic and clinical parameters
will be collected, including ethnicity, age at first presentation, symptoms at presentation,
history of subsequent symptoms, treatment history, Spetzler-Martin AVM grade, medication
history, and other pertinent medical information. In patients undergoing AVM resection, a
small sample of the AVM will be collected for concurrent genomic analysis. Family members
will donate saliva (5mL) and document their relationship to the patient (i.e., parent,
sibling, child, etcl). Nucleic acids will be isolated from the saliva/blood samples, and
genetic sequencing will be carried out. When a surgical sample of the AVM is available,
nucleic acids will be obtained and transcriptome profiling will be performed. Identification
of genetic alterations common to patients with AVM and not present in samples from parents
and siblings will greatly aid in identification of pathways associated with AVM formation.
Candidate sequences will be chosen by differential expression (p<0.05) and fold-changes.
Once identified, mechanisms for the rapid detection of marker sequences will be developed
and their predictive value tested in future collections.
- Age between 6 and 60 years inclusive
- Diagnosis of AVM or nuclear family member of a patient with AVM
- Grants access to saliva, blood, and/or tissue
- Age less than 6 years or greater than 61 years
- Nuclear family members who do not share the same parents as the AVM patient