دورية أكاديمية
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
| العنوان: | Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome |
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| المؤلفون: | Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Dalla Bernardina, Bernardo, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, D'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo, Grp, Aicardi Syndrome Int Study |
| المصدر: | Masnada , S , Pichiecchio , A , Formica , M , Arrigoni , F , Borrelli , P , Accorsi , P , Bonanni , P , Borgatti , R , Dalla Bernardina , B , Danieli , A , Darra , F , Deconinck , N , De Giorgis , V , Dulac , O , Gataullina , S , Giordano , L , Guerrini , R , La Briola , F , Mastrangelo , M , Montomoli , M , Mortilla , M , Osanni , E , Parisi , P , Perucca , E , .... |
| سنة النشر: | 2021 |
| المجموعة: | University of Southern Denmark: Research Output / Syddansk Universitet |
| مصطلحات موضوعية: | Adolescent, Adult, Aicardi Syndrome/diagnostic imaging, Basal Ganglia/abnormalities, Brain/abnormalities, Child, Preschool, Drinking, Drug Resistant Epilepsy/diagnostic imaging, Eating, Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Motor Skills, Retina/diagnostic imaging, Retrospective Studies, Seizures/diagnostic imaging, Treatment Outcome, Young Adult |
| الوصف: | Objective Aiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed. Methods Only patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems. Brain imaging studies and statistical analysis were reviewed. Results Patients presented early-onset epilepsy, which evolved into drug-resistant seizures. AIC has a variable clinical course, leading to permanent disability in most cases; nevertheless, some cases presented residual motor abilities. Chorioretinal lacunae were present in 86.56 EEG at onset, and clinical outcome. On brain imaging, 100 98 and 96.36with similar rates of 2b and 2d). As well as demonstrating that posterior fossa abnormalities (found in 63.63 should also be considered a common feature in AIC, our study highlighted the presence (in 76.36 of basal ganglia dysmorphisms (never previously reported). Conclusion The AIC neuroradiologic phenotype consists of a complex brain malformation whose presence should be considered central to the diagnosis. Basal ganglia dysmorphisms are frequently associated. Our work underlines the importance of MRI and EEG, both for correct diagnosis and as a factor for predicting long-term outcome. Classification of Evidence This study provides Class II evidence that for patients with AIC, specific MRI abnormalities and EEG at onset are associated with clinical outcomes. ; Objective Aiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed. Methods Only ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://portal.findresearcher.sdu.dk/da/publications/5215a820-3de7-4d32-bdc3-0dd192480d8fTest |
| DOI: | 10.1212/WNL.0000000000011237 |
| الإتاحة: | https://doi.org/10.1212/WNL.0000000000011237Test https://portal.findresearcher.sdu.dk/da/publications/5215a820-3de7-4d32-bdc3-0dd192480d8fTest https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8055324/pdf/NEUROLOGY2019052274.pdfTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.D37A68A9 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1212/WNL.0000000000011237 |
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