by Isabella Colonna
Symposium 5, titled ‘Diagnosis and treatment of rare causes of cerebrovascular disorders: Practical guidance’ was one of the highlights of Saturday morning at EAN 2023, moderated by Prof. Natan Bornstein and Prof. Anita Arsovska.
The first lecture ‘Heritable small vessel diseases: European registries and data sharing’ was given by Prof. Anna Bersano. In her talk, she explained the clinical and neuroradiological features of monogenic small vessel diseases, such as CADASIL, Fabry’s disease, CARASIL and small vessel diseases related to heterozygous HTRA2 mutations. She highlighted the fact that monogenic disorders associated with cerebral small vessel diseases, represent a challenging diagnosis and their recognition is mandatory in order to implement their management measures. An accurate family history, appropriate neuroimaging techniques, multidisciplinary team consultation and data aggregations are necessary in order to better define this group of disease.
In the second lecture ‘Genetics of stroke: Big data’, Prof. Stéphanie Debette focused on multifactorial forms of stroke, which are determined by multiple genetic and environmental causes. In recent years, large-scale genome-wide association studies (GWAS) contributed to a better identification of genes underlying stroke. These studies may help in accelerating the discovery of specific mechanism-based drugs for stroke and to identify individuals who are at high risk of developing stroke. In her talk, Prof. Debette explained the results of the Gigastroke study, which included non-European cohorts, in contrast to previous GWASs of stroke.
In the third lecture, titled ‘Diagnostic criteria and treatment of central nervous system vasculitis: is there space for artificial intelligence applications?’, Prof. Luigi Caputi focused on pathological, clinical and radiological features as well as on treatment of primary central nervous system vasculitis (PACNS). He highlighted the need for performing a biopsy in order to make a diagnosis, since clinical and radiological features are not specific. The treatment is based on glucocorticoids and immunosuppressant. At the end of his talk, Prof. Caputi highlighted the importance of artificial intelligence in excluding other etiologies and of a multidisciplinary approach.
In the last lecture ‘Diagnosis and management of not heritable rare cerebrovascular disorders’, Prof. Arsovska explained the pathological and clinical features as well as the therapeutical management of cerebrovascular disorders such as primary central nervous system vasculitis, Susac’s syndrome, Sneddon’s disease, reversible cerebral vasoconstriction syndrome, Takotsubo’s syndrome and Moyamoya disease.
