Alexander Disease Research Update - Episode #4 - case report, clinical trials

Update: 2021-10-26

Description

Albee Messing and Amy Waldman discuss the following recent publication:

[00:40 ] Amano E, Yoshida T, Mizuta I, Oyama J, Sakashita S, Ueyama S, Machida A, Yokota T. (2021). Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease. Neurology Genetics. 7, e626 PMCID: PMC8488758

Florian Eichler joins for a discussion about outcomes and clinical trials, prompted by:

[13:09 ] Questions from email

Send your questions and feedback to: axdrupodcast@waisman.wisc.edu

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

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

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In Channel

Alexander Disease Research Update - Episode #23: Albee Messing's presentation at the recent conference in Philadelphia

2024-08-0722:22

Alexander Disease Research Update - Episode #22: 1) anesthesia and AxD, and 2) GFAP cross-linking to itself

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Alexander Disease Research Update - Episode #21: 1) Blood levels of GFAP, neurofilaments, and tau, and 2) planning for in-person conference in Philadelphia this summer.

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Alexander Disease Research Update - Episode #20: 3D bioprinting method for co-culture of neurons and astrocytes reveals new features of Alexander disease

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Alexander Disease Research Update - Episode #19: Giant Axonal Neuropathy and Alexander Disease

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Alexander Disease Research Update - Episode #18: 1) Quantitative MRI in rat model, and 2) Developmental milestones in cerebral form of AxD

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Alexander Disease Research Update - Episode #17: 1) new iPS cell line, 2) acetylation and GFAP, and 3) STAT3 as a key regulator driving GFAP accumulation

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Alexander Disease Research Update - Episode #16: Webinar - Guangping Gao lab

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Alexander Disease Research Update - Episode #15: subclassifications of Type I; questions regarding 1) mesenchymal stem cells and 2) the intransasal route of delivery

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Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem

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Alexander Disease Research Update - Episode #13: MRI diffusion tractography - what can it tell us?

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Alexander Disease Research Update - Episode #12: GFAP variants and oxidative stress/mitochondrial dysfunction; commentary on dizziness, risks of brain biopsies

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Alexander Disease Research Update - Episode #11: neurology 101 (location, location, location), discussion on the autonomic nervous system

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Alexander Disease Research Update - Episode #10: effects of variants in the rod domain on GFAP assembly and aggregation, new ideas about functions of intermediate filaments

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

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

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Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research

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Alexander Disease Research Update - Episode #5 - case report with silent mutation and area postrema syndrome; neuropsychological testing

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Alexander Disease Research Update - Episode #4 - case report, clinical trials

2021-10-2627:02