Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation
Albee Messing and Amy Waldman discuss the following recent publications:
[01:08 ] Mateos et al. (2022). Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities. Brain Pathology e13049
[06:21 ] Takeuchi et al. (2022) GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. Radiology Case Reports 17, 771-774 [full text]
[13:48 ] Mura et al. (2021). Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients. Molecular Genetics and Metabolism 134, 353-358
[18:17 ] Questions from email – how to manage constipation.
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