Article
Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families.
Neuroradiology - 1 Sept 2024
Albacete Marianna Angelo Palmejani, Simão Gustavo Novelino, Lourenço Charles Marques, Dos Santos Antonio Carlos
Abstract excerpt
PURPOSE: To characterize Vanishing White Matter Disease (VWM) cases from a Brazilian University Tertiary hospital, focusing on brain magnetic resonance image (MRI) aspects, clinical and molecular data. METHODS: Medical records and brain MRI of 13 genetically confirmed VWM patients were reviewed. Epidemiological data such as age at symptom onset, gender and main symptoms were analyzed, along with genetic mutations...
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