{Reference Type}: Journal Article
{Title}: Neurological abnormalities in individuals with Marfan syndrome: results from a genetically confirmed Italian cohort.
{Author}: Benini M;Foschi M;Barone V;Vornetti G;Spinardi L;Mariucci E;Donti A;Cortelli P;Guarino M;
{Journal}: Neurol Sci
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jun 5
{Factor}: 3.83
{DOI}: 10.1007/s10072-024-07625-2
{Abstract}: <B>OBJECTIVE: </B>Neurological abnormalities have been frequently reported in individuals with Marfan Syndrome (MFS). However, available data relies solely on retrospective studies predating current diagnostic criteria.<BR><B>METHODS: </B>Cross-sectional study comprehensively investigating neurological abnormalities within a prospective cohort of adults (≥ 18 years) with genetically confirmed MFS referred to an Italian hub center for heritable connective tissue diseases (Jan. 1st - Nov. 15th, 2021).<BR><B>RESULTS: </B>We included a total of 38 individuals (53% female). The commonest neurological symptom was migraine (58%), usually without aura (73%). Neuropsychological testing was generally unremarkable, whilst anxiety and depression were highly prevalent within our cohort (42% and 34%, respectively). The most frequent brain parenchymal abnormality was the presence of cortico-subcortical hypointense spots on brain MRI T2* Gradient-Echo sequences (39%), which were found only in patients with a prior history of aortic surgery. Migraineurs had a higher frequency of brain vessels tortuosity vs. individuals without migraine (73% vs. 31%; p = 0.027) and showed higher average and maximum tortuosity indexes in both anterior and posterior circulation brain vessels (all p < 0.05). At univariate regression analysis, the presence of brain vessels tortuosity was significantly associated with a higher risk of migraine (OR 5.87, CI 95% 1.42-24.11; p = 0.014).<BR><B>CONCLUSIONS: </B>Our study confirms that neurological abnormalities are frequent in individuals with MFS. While migraine appears to be associated with brain vessels tortuosity, brain parenchymal abnormalities are typical of individuals with a prior history of aortic surgery. Larger prospective studies are needed to understand the relationship between parenchymal abnormalities and long-term cognitive outcomes.