Alexander Disease Research Update - Episode #8 - two case reports, natural history study of 21 pediatric patients, management of constipation

Send us Fan Mail

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.

Send your questions and feedback to:  [email protected]

Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:

          https://alexander-disease.waisman.wisc.edu/donate/