Alexander Disease Research Update

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Alexander Disease Research Update – Episode #24: 1) iPS cell model with aberrant development and 2) unusual variant in GFAP affecting the eye

2024-11-2528:32

Albee Messing and Natasha Snider discuss the following recent publications: [01:04] Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease Glia (2024) (in press)[16:46] A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairmentHuman Molecular Genetics (2024) (in press)Send your questions and feedback to:...

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

2024-08-0722:22

Albee Messing’s presentation at the recent Alexander disease conference in Philadelphia, August 3, 2024. Send your questions and feedback to: amessing@wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/

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

2024-07-0720:46

Albee Messing, Amy Waldman, and Natasha Snider discuss the following recent publications: [02:07] A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging Paediatric Anesthessia (in press) [10:17] Glial fibrillary acidic protein is pathologica...

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.

2024-05-1615:21

Albee Messing, Jenny Pearson, Natasha Snider, and Amy Waldman discuss the following recent publication and the conference planned for this summer in Philadelphia: [02:02] Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease Neurological Sciences (2024) [full text][04:16] Discussion about Philadelphia Conference, August 2-4, 2024 Sen...

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

2024-03-2415:37

Albee Messing and Linghai Kong discuss the following recent publication: [01:52] 3D bioprinting of human neural tissues with functional connectivity. Cell Stem Cell 31:260-274.e7 (2024) [full text]Send your questions and feedback to: amessing@wisc.eduHelp support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center: https://alexander-disease.waisman.wisc.edu/donate/ &n...

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

2024-02-1018:24

Albee Messing, Rachel Battaglia, and Natasha Snider discuss the following publication: [00:59] Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)Molecular Biology of the Cell (in press)[full text - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10846626/]Send your questions and feedback to: amessing@wisc.eduHelp support research on Alexander Disease at the University of Wiscon...

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

2023-11-2228:42

Albee Messing, Nick Stowe, JP Yu, and Amy Waldman discuss the following recent publications: [4:30] Stowe NA, Singh AP, Barnett BR, Yi SY, Frautschi PC, Messing A, et al. Quantitative diffusion imaging and genotype-by-sex interactions in a rat model of Alexander disease. Magnetic Resonance in Medicine (2023) in press[15:11] Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexand...

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

2023-09-0824:11

Albee Messing, Rachel Battaglia, and Tracy Hagemann discuss the following recent publications: [01:45] A defined roadmap of radial glia and astrocyte differentiation from human pluripotent stem cells Stem Cell Reports 18, 1701-1720 (2023)[includes new iPS cell line from an individual with Alexander disease] [full text][05:39] Isolation of Intermediate Filament Proteins from M...

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

2023-08-0801:08:57

Webinar on the strategy and preliminary results for “AAV-mediated Gene Silencing for the Treatment of Alexander Disease” presented by Drs. Guangping Gao, Jun Xie, and Dominic Gessler from the University of Massachusetts Medical School. This version is audio only - the full video version will be made available later at a site that is not yet determined.

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

2023-04-0520:25

Albee Messing and Davide Tonduti discuss the following recent publication: [00:41] Type I Alexander Disease: Update and Validation of the Clinical Evolution-Based ClassificationMolecular Genetics and Metabolism 138, 107540, 2023 [16:01] Questions from email regarding mesenchymal stem cells for transplantation and the intranasal route for delivering therapeutics to the central nervous system. Send your questions and feedback to...

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

2022-11-1218:17

Albee Messing and Josh Bonkowsky discuss the following recent publication: [02:13] Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.European Journal of Medical Research 27, 174 (2022) [full text][14:20] Questions from email regarding the brainstem in Alexander disease.Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp suppor...

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

2022-10-1316:35

Albee Messing, Emi Takahashi, Arastoo Vossough, and Amy Waldman discuss the following recent publication: [02:03] Identification of association fibers using ex vivo diffusion tractography in Alexander disease brainsJournal of Neuroimaging (in press)Send your questions and feedback to: axdrupodcast@waisman.wisc.edu

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

2022-09-0125:25

Albee Messing, Rachel Battaglia, and Abby Olsen discuss the following recent publication: [01:00] Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress (Redox Biology, 55:102415, 2022)[14:23] Questions from email regarding 1) dizziness and 2) risks of brain biopsies. Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp s...

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

2022-08-0533:45

Albee Messing and Abby Olsen discuss the following recent publication: [03:04] Adult-onset Alexander disease: new causal sequence variant in the GFAP gene. (Neurology: Genetics, in press) [14:15] Autonomic nervous system – part 1 [26:09] Questions from email regarding connecting spinal cord problems and symptoms. [31:17] Autonomic nervous system – part 2Send your questio...

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

2022-06-0934:04

Albee Messing and Natasha Snider discuss the following recent publication: [04:44] Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments (Molecular Biology of the Cell, in press) [28:53] Questions from email regarding heritability, penetrance, and skipping generations.Send your questions and feedback to: axdrupodcast@waisman.wisc.eduHelp support research on Alexander...

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

2022-04-1241:27

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 Typ...

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

2022-03-0623:54

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] &n...

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

2022-01-2727:38

Albee Messing and Michael Brenner discuss the following recent publications: [01:01] Bachetti T et al. (2021). Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease. Frontiers in Pharmacology 12, 723218 [full text][06:10] Grossi A et al. (2021). Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation. Frontiers in Genetics 12, 74...

Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics

2022-01-0447:48

Albee Messing, Rachel Battaglia, and Peter Todd discuss the following recent publications: But first, revisiting the issue of “silent” mutations.[05:02] Xu, S.Y. et al. (2021). Type II Alexander disease with fragile X mental retardation 1 gene mutation. Clinical Neurology and Neurosurgery 211, 107023 [18:25] Hagemann, T.L. et al. (2021). Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairmen...

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

2021-12-0426:19

Albee Messing, Amy Waldman, and Nina Thomas discuss the following recent publications: [01:28] Srivastava S, Waldman A, Naidu S (2020) Alexander disease. In: GeneReviews(®) (Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, eds). Seattle (WA): University of Washington, Seattle [review, focusing on clinical aspects] [full text][02:20] Renaldo F, Chalard F, Valence S, Burg...

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