Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor

Albee Messing, Mel Feany, Florian Eichler, and Ming der Perng discuss the following recent publications: 

[02:21]       Wang L et al. (2022) Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease. 

Journal of Neuroscience  (in press) 

[reports interesting new mechanisms of astrocyte dysfunction]

[18:42]       Kang YR et al. (2022). A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes. 

                  European Journal of Human Genetics  (in press)

[case report describing unusual variant and symptoms, podcast includes commentary on head trauma and psychiatry]

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Chapters

• 2:21 Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease
• 18:42 A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes