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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