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 Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications
Journal of Visualized Experiments 18, 55655 (2017)
[includes data on acetylation of lysines in GFAP] [full text]
[10:26] STAT3 Drives GFAP Accumulation and Astrocyte Pathology in a Mouse Model of Alexander Disease
Cells 12, 978 (2023)
[identification of one of the key mechanisms responsible for the increase in GFAP levels in Alexander disease] [full text]
[22:35] Questions from email: does Alexander disease affect menstrual cycles?
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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.
Albee Messing and Davide Tonduti discuss the following recent publication:
[00:41] Type I Alexander Disease: Update and Validation of the Clinical Evolution-Based Classification
Molecular 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.
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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.
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Albee Messing, Emi Takahashi, Arastoo Vossough, and Amy Waldman discuss the following recent publication:
Journal of Neuroimaging (in press)
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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.
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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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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 2
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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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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.
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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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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]
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:
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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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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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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, 744068 [full text]
[first convincing case of germline mosaicism in parent]
[14:46] Questions from email regarding the rat-ASO publication and variability in severity in humans.
[17:52] Murrray Brilliant joins to discuss how electronic health records are used in research and whether this will give us better estimates of national or world-wide numbers of people who have Alexander disease.
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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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 impairment. Science Translational Medicine 13, eabg4711 (in press)
[38:44] Heaven, M.R. et al. (2021). Metabolic enzyme alterations and astrocyte dysfunction in a murine model of Alexander disease with severe reactive gliosis. Molecular and Cellular Proteomics 100180 (in press) [full text]
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, Burglen L, Rodriguez D. (2021). Area postrema syndrome as the initial presentation of Alexander disease. Neurology 97, 548-549 [short case report]
[10:32] Kirsch AC, McCall DM, Lange H, Renaud D, Brown T, Zaccariello MJ. (2021). Neuropsychological functioning in Alexander disease: a case series. Child Neurology Open 8, 2329048x211048614 [full text] [case #1 MRIs previously reported in Matarese 2008]
[21:36] Questions from email regarding eligibility for blood/organ donation, optic neuropathies, and treatment for vomiting.
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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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
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Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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Albee Messing, Berit Powers and Rachel Battaglia discuss the following recent publication:
[4:11] Nagata T et al. (2021). Cholesterol-functionalized DNA/RNA heteroduplexes cross the blood-brain barrier and knock down genes in the rodent CNS. Nat Biotechnol. (in press)
PMID: 34385691
[26:30] 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:
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Albee Messing and Amy Waldman discuss:
[7:45} Yoshida T, Mizuta I, Yasuda R, Mizuno T. 2021. Clinical and radiological characteristics of older-adult-onset Alexander disease. Eur J Neurol (in press)
[24:40] Questions from email
Send your questions 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/
Albee Messing and Michael Brenner discuss:
Hunt, CK, et al. Does genetic anticipation occur in familial Alexander disease? (2021). Neurogenetics (in press)
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241638/
https://medlineplus.gov/genetics/understanding/inheritance/anticipation/
Send your questions 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/
