Neurological abnormalities in individuals with Marfan syndrome: results from a genetically confirmed Italian cohort.
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| Title: | Neurological abnormalities in individuals with Marfan syndrome: results from a genetically confirmed Italian cohort. |
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| Authors: | Benini, Matteo (AUTHOR), Foschi, Matteo (AUTHOR), Barone, Valentina (AUTHOR), Vornetti, Gianfranco (AUTHOR), Spinardi, Luca (AUTHOR), Mariucci, Elisabetta (AUTHOR), Donti, Andrea (AUTHOR), Cortelli, Pietro (AUTHOR), Guarino, Maria (AUTHOR) |
| Source: | Neurological Sciences. Nov2024, Vol. 45 Issue 11, p5355-5363. 9p. |
| Subjects: | Connective tissue diseases, Brain abnormalities, Marfan syndrome, Cerebral circulation, Neuropsychological tests |
| Abstract: | Background and aims: Neurological abnormalities have been frequently reported in individuals with Marfan Syndrome (MFS). However, available data relies solely on retrospective studies predating current diagnostic criteria. Methods: 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). Results: 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). Conclusions: 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. [ABSTRACT FROM AUTHOR] |
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| Database: | Psychology and Behavioral Sciences Collection |
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